Sickle cell yare a ɛma obi nya yare
Sickle cell disease (SCD), a na ɔfrɛ no sickle cell, yɛ abatoɔ a ɛyɛ ɔyare a ɛda ho adi sɛ ɛyɛ ɔyare a ɛfa haemoglobin ho. Abatoɔ a ɛyɛ kɛse no ne sickle cell anemia. Sickle cell anemia ma ɔyare a ɛda ho adi sɛ ɛyɛ ɔyare a ɛyɛ ɔkwan a ɛda ho adi wɔ hemoglobin a ɛwɔ mmerɛ ne mogya mu. Eyi ma mmerɛ no bɛyɛ abatoɔ a ɛyɛ sickle-like shape wɔ nsɛm bi mu; wɔ saa shape yi mu no, wɔnntumi mfa ho nsɛm a ɛda ho adi a wɔbɛyɛ sɛ wɔbɛkɔ fa mu, na eyi ma nsɛm a ɛda ho adi bɔ mu. Nsɛm a ɛda ho adi wɔ sickle cell disease no bɛyɛ fi mfe 5 kɔ mfe 6 mu. Nsɛm a ɛda ho adi bɛba, sɛnea ɛyɛ ɔyare a ɛyɛ pain (a wɔfrɛ no sickle cell crisis) wɔ akwan mu, anemia, nsuo mu kɔkɔɔ wɔ nsa ne nan mu, bacteria yare, nsusuwso ne stroke. Nsɛm a ɛda ho adi a ɛyɛ den, a ɛka ho sɛ pain a ɛyɛ tenten, bɛyɛ kɛse wɔ mfe mu. Sɛ wɔmfa ɔyare no nkyerɛkyerɛ a, nnipa a wɔwɔ SCD no nni nkwa a ɛyɛ tenten, nanso sɛ ɔyare no yɛ yie a, nkwa tenten yɛ mfe 58 ne 66 ntam. Abatoɔ kɛse no nyinaa yɛ sickle cell disease no mu. Liver, ɔyare mu, kidneys, gallbladder, ani, nan, ne akwan bɛtumi ayera fi sickle cells a wɔn ho nsɛm a ɛda ho adi ne wɔn ntumi mfa ho nsɛm a ɛda ho adi mu.
Sickle cell disease yɛ ɔyare a ɛba sɛ onipa bi fa abatoɔ abien a ɛyɛ abɛyɛde a ɛyɛ bɔne fi β-globin gene a ɛyɛ haemoglobin no mu, baako fi ɔyɛfoɔ biara. Abatoɔ a ɛyɛ kɛse no bɛn ho wɔ mu, sɛnea ɛda ho adi a ɛyɛ ɔkwan a ɛda ho adi wɔ haemoglobin gene no mu. Sɛ nsɛm a ɛda ho adi bɔ mu a, ɛbɛyɛ sɛ ɔyare no bɛba sɛ nsɛm a ɛda ho adi yɛ nsɛm a ɛda ho adi, ɔyare mu, nsuo mu kɔkɔɔ, ne akwan a ɛyɛ kɛse. Onipa a ɔwɔ abatoɔ baako a ɛyɛ bɔne no, ɔnni nsɛm a ɛda ho adi na wɔfrɛ no sickle cell trait. Saa nnipa yi nso wɔfrɛ wɔn carriers. Sɛ wɔpɛ sɛ wɔhwɛ ɔyare no a, wɔyɛ blood test, na ɔman biara yɛ test ma abɔfra nyinaa wɔ wɔn da a wɔwoo wɔn. Sɛnea ɛda ho adi no, wɔbɛtumi ahwɛ ɔyare no mu nso bere a ɔbea no da mu.
Ebia nnipa a wɔwɔ sickle cell yare a wɔhwɛ wɔn no bi ne ɔyare mmoawa a wɔde siw ano denam nnuru a wɔde bɔ wɔn ho ban ne nnuru a ekum ɔyare mmoawa so, nsu pii a wɔnom, folic acid a wɔde ma, ne ɛyaw nnuru . [1] Nneɛma afoforo a wobetumi ayɛ ne mogya a wɔde ma ne aduru a wɔfrɛ no hydroxycarbamide (hydroxyurea). Wɔ afe 2023 mu no, wɔpenee awosu mu ayaresa foforo a ɛfa awosu mu nkwaadɔm mu nsakrae ne ntini mu nkwammoaa a ɛyɛ mogya a xɛwɔ nnompe mu ntini mu a wɔde besi ananmu ho.
Ɛyɛ ɔyɛ a ɛda ho adi sɛ, sɛ yɛka 2021 a, wɔyɛ adwene sɛ sickle cell disease (SCD) bɛyɛ ɔman 7.7 million nnipa wɔ wiase nyinaa, na ɛma ɔhaw a ɛyɛ 34,000 nkwa a ɛkɔtɔ so da biara na ɛyɛ ɔkwan a ɛka ho ma nkwa a ɛkɔtɔ so 376,000. Ɛda ho adi sɛ 80% a sickle cell disease yɛ no bɛn Sub-Saharan Africa. Saa ɔyare no nso yɛ ɔkwan a ɛda ho adi wɔ nnipa mu a wɔwɔ India, Southern Europe, West Asia, North Africa ne nnipa a wɔn mmerɛ ne African origin (sub-Saharan) a wɔte ɔman foforɔ mu. Ɔyare no mu nsɛm a edi kan kyerɛwee wɔ abɔdeɛ ho nsɛm mu na ɔyɛ ɔyare a ɛda ho adi wɔ 1910 mu fi ɔbenfoɔ Americani James B. Herrick. Ɛwɔ 1949 mu na E. A. Beet ne J. V. Neel bɛyɛɛ adwuma a ɛda ho adi sɛ ɔyare no fa abatoɔ mu kɔ. Ɛwɔ 1954 mu na wɔda ho adi sɛ wɔn a wɔwɔ abatoɔ a ɛyɛ bɔne no bɛyɛ mmerɛ ne malaria ho
Mpɛn pii no, sickle cell yare ho sɛnkyerɛnne fi ase wɔ mmofraase. Sɛnea sɛnkyerɛnne ahorow no mu yɛ den no betumi ayɛ soronko wɔ onipa biara ho, na saa ara na ɔhaw ahorow a ɛtaa ba no nso betumi ayɛ soronko. Sickle cell yare betumi de ɔhaw ahorow a emu yɛ den ne nea enni sabea aba, a emu dodow no ara wuwu.
Nsɛm a edi kan a esisii
[sesa]Sɛ SCD ba wɔ n’asetra afe a edi kan mu a, ɔhaw a ɛtaa ba ne ɛyaw ne ɔfe a ɛba abofra no nsa ne ne nan mu, a wɔfrɛ no dactylitis anaa “nsa ne nan ho yare.” Pallor, jaundice, ne ɔbrɛ nso betumi ayɛ sɛnkyerɛnne a edi kan esiane mogya a ɛtɔ kɔ nipadua mu a efi sickle cell yare mu ba nti.
Biribiara a ɛma mogya ntini mu yɛ den no betumi akanyan VOC; nea ɛka eyi ho ne honam fam anaa adwene mu nhyɛso, awɔw, ne nsu a ɛho nhia . " Bere a HbS deoxygenates wɔ capillaries no mu akyi no, egye bere bi (sekan) ma HbS polymerization ne nea edi hɔ a ɛyɛ flexible-to-rigid nsakrae. Sɛ bere a RBC fa microvasculature no mu no ware sen polymerization bere no a, sickled RBC bɛtra microvasculature no mu. "
Akisikuru no taa sɛe titiriw wɔ SCD mu esiane dwuma a edi sɛ mogya a wɔde yiyi mu nti. Splenic sequestration crisis, a wɔsan frɛ no spleen crisis, yɛ aduruyɛ mu tebea a egye ntɛmpɛ a ɛba bere a mogya mu nkwammoaa kɔkɔɔ a wɔde sickled ayɛ no siw spleen no filter mechanism, na ɛma spleen no hohoro na mogya hyɛ mu ma no. Mogya mu nkwammoaa kɔkɔɔ a ɛboaboa ano wɔ akyi berɛmo no mu no ma hemoglobin a ɛkyinkyini no so tew mpofirim na mogya a ɛtɔ kɔ nipadua no mu a ebetumi de nkwa ato asiane mu. Nsɛnkyerɛnne no bi ne ɛyaw wɔ benkum so, akyi berɛmo a ahonhon (a wobetumi ahu denam nsa a wɔde ka so ), ɔbrɛ, adwenemhaw, abufuw, koma a ɛbɔ ntɛmntɛm, anaa honam ani a ɛyɛ fitaa. Ɛtaa ka mmofra nkumaa, mfe a wɔde di kan ba no yɛ mfe 1.4. Edu mfe 5 no, mpɛn pii a wɔde wɔn ho hyɛ mu no ma akuru no yɛ akuru na awiei koraa no ɛyɛ mmerɛw . [2]
Nnipa dodow no ara a wɔwɔ sickle cell yare no wɔ nsɛm a ɛyɛ yaw kɛse a wɔfrɛ no vaso-occlusive crises (VOC). Nanso, mpɛn dodow a ɔhaw ahorow yi ba, sɛnea emu yɛ den, ne bere tenten a egye no gu ahorow kɛse. Wɔ VOC mu no, mogya mu nkwammoaa kɔkɔɔ a wɔde sickled siw mogya ntini no kwan, na ɛde ischemic opira ba ntini ahorow no mu, ɔfe ne ɛyaw. Ebia nsɛm a ɛsan ba no bɛma akwaa akwaa asɛe a wontumi nsakra.
VOC ho sɛnkyerɛnne a ɛtaa ba na ɛda adi pefee ne ɛyaw, a ebia wɔbɛte nka wɔ nipadua no mu baabiara nanso wɔtaa te nka wɔ akwaa ne akyi. Ɛsono sɛnea ɛyaw no te fi nea emu nyɛ den so kosi nea emu yɛ den so. Ofie ayaresa a wobetumi apaw bi ne mpa a wɔde bɛda ne nsu a wɔde ma, ne ɛyaw ano aduru a wɔde nnuru a wɔtɔn te sɛ paracetamol anaa ibuprofen di dwuma . Ebia nsɛm a emu yɛ den kɛse no behia opioid a wɔkyerɛw ma obi te sɛ codeine anaa morphine de siw ɛyaw ano.
Genetics
[sesa]Gene a ɛyɛ mfomso no yɛ ntotoho a ɛda so yɛ nucleotide baako a ɛyɛ β-globin gene mu, a ɛma glutamate yɛ abɛyɛ valine wɔ β-globin chain no ɔkwan 6 so. Hemoglobin S a wɔde mfomso yi yɛ HbS, na ɛnyɛ ɔmanpanyin a ɛyɛ HbA. Sɛ ɔyare mu nsɛm a ɛyɛ mmerɛwyɛ a ɛda so yɛ oxygen a ɛda hɔ no, ɛnnyɛ ɔkwan biara a ɛda so yɛ hemoglobin anaa ne tumi de bɔ oxygen kɔ ɔhonam mu. Nanso, deoxy form a ɛyɛ HbS no wɔ hydrophobic patch a ɛda hɔ a ɛma HbS molecules no bɔ mu yɛ nan ntama tenten a ɛnyɛ mmerɛ. Sɛ nsɛm a ɛyɛ mmerɛwyɛ a ɛda so yɛ oxygen a ɛda hɔ wɔ mogya mu, sɛnea yɛyɛ adwuma, yɛda ho nsɛm, ɔkwan anaa nsuo a ɛda hɔ no, HbS polymerization no bɔ fibrous precipitates wɔ mmerɛ red blood cell mu. Wɔ nnipa a wɔyɛ homozygous ma sickle cell mutation no, sɛ long-chain polymers a ɛyɛ HbS d
a hɔ a ɛma red blood cell no ho yɛ den fi ɔkwan a ɛyɛ nsonsonoe, na ɛma ne ho yɛ den na ɛyɛ mmerɛ na ɛyɛ mmerɛ sɛnea ɛbɛda ho nsɛm anaa ɛbɛyɛ den wɔ capillaries mu.
Genetics
[sesa]Gene a ɛyɛ mfomso no yɛ ntotoho a ɛda so yɛ nucleotide baako a ɛyɛ β-globin gene mu, a ɛma glutamate yɛ abɛyɛ valine wɔ β-globin chain no ɔkwan 6 so. Hemoglobin S a wɔde mfomso yi yɛ HbS, na ɛnyɛ ɔmanpanyin a ɛyɛ HbA. Sɛ ɔyare mu nsɛm a ɛyɛ mmerɛwyɛ a ɛda so yɛ oxygen a ɛda hɔ no, ɛnnyɛ ɔkwan biara a ɛda so yɛ hemoglobin anaa ne tumi de bɔ oxygen kɔ ɔhonam mu. Nanso, deoxy form a ɛyɛ HbS no wɔ hydrophobic patch a ɛda hɔ a ɛma HbS molecules no bɔ mu yɛ nan ntama tenten a ɛnyɛ mmerɛ. Sɛ nsɛm a ɛyɛ mmerɛwyɛ a ɛda so yɛ oxygen a ɛda hɔ wɔ mogya mu, sɛnea yɛyɛ adwuma, yɛda ho nsɛm, ɔkwan anaa nsuo a ɛda hɔ no, HbS polymerization no bɔ fibrous precipitates wɔ mmerɛ red blood cell mu. Wɔ nnipa a wɔyɛ homozygous ma sickle cell mutation no, sɛ long-chain polymers a ɛyɛ HbS d
a hɔ a ɛma red blood cell no ho yɛ den fi ɔkwan a ɛyɛ nsonsonoe, na ɛma ne ho yɛ den na ɛyɛ mmerɛ na ɛyɛ mmerɛ sɛnea ɛbɛda ho nsɛm anaa ɛbɛyɛ den wɔ capillaries mu.
Sickle cell disease (SCD) yɛ ɔyare a ɛyɛ mmerɛ na ɛda so yɛ nkutoo a ɛda ho adi sɛ ɛyɛ ɔyare a ɛyɛ nsonsonoe a ɛda ho adi sɛ malaria yɛ ɔyare a ɛda so yɛ ɔyare a ɛyɛ mmerɛ. Sickle cell trait no ma ɔbarima anaa ɔbea a ɔwɔ no tumi nya nkwa a ɛyɛ mmerɛ wɔ nsɛm a ɛfa malaria ho, sen nnipa a wɔwɔ normal hemoglobin wɔ mpɔtam anaa nsɛm a malaria da so yɛ ɔyare a ɛyɛ mmerɛ.
Genetics
[sesa]Gene a ɛyɛ mfomso no yɛ ntotoho a ɛda so yɛ nucleotide baako a ɛyɛ β-globin gene mu, a ɛma glutamate yɛ abɛyɛ valine wɔ β-globin chain no ɔkwan 6 so. Hemoglobin S a wɔde mfomso yi yɛ HbS, na ɛnyɛ ɔmanpanyin a ɛyɛ HbA. Sɛ ɔyare mu nsɛm a ɛyɛ mmerɛwyɛ a ɛda so yɛ oxygen a ɛda hɔ no, ɛnnyɛ ɔkwan biara a ɛda so yɛ hemoglobin anaa ne tumi de bɔ oxygen kɔ ɔhonam mu. Nanso, deoxy form a ɛyɛ HbS no wɔ hydrophobic patch a ɛda hɔ a ɛma HbS molecules no bɔ mu yɛ nan ntama tenten a ɛnyɛ mmerɛ. Sɛ nsɛm a ɛyɛ mmerɛwyɛ a ɛda so yɛ oxygen a ɛda hɔ wɔ mogya mu, sɛnea yɛyɛ adwuma, yɛda ho nsɛm, ɔkwan anaa nsuo a ɛda hɔ no, HbS polymerization no bɔ fibrous precipitates wɔ mmerɛ red blood cell mu. Wɔ nnipa a wɔyɛ homozygous ma sickle cell mutation no, sɛ long-chain polymers a ɛyɛ HbS d
a hɔ a ɛma red blood cell no ho yɛ den fi ɔkwan a ɛyɛ nsonsonoe, na ɛma ne ho yɛ den na ɛyɛ mmerɛ na ɛyɛ mmerɛ sɛnea ɛbɛda ho nsɛm anaa ɛbɛyɛ den wɔ capillaries mu.
Sickle cell disease (SCD) yɛ ɔyare a ɛyɛ mmerɛ na ɛda so yɛ nkutoo a ɛda ho adi sɛ ɛyɛ ɔyare a ɛyɛ nsonsonoe a ɛda ho adi sɛ malaria yɛ ɔyare a ɛda so yɛ ɔyare a ɛyɛ mmerɛ. Sickle cell trait no ma ɔbarima anaa ɔbea a ɔwɔ no tumi nya nkwa a ɛyɛ mmerɛ wɔ nsɛm a ɛfa malaria ho, sen nnipa a wɔwɔ normal hemoglobin wɔ mpɔtam anaa nsɛm a malaria da so yɛ ɔyare a ɛyɛ mmerɛ.
Malaria ɔyare no yɛ ɔyare a ɛda so yɛ ɔyare a ɛyɛ mmerɛ na ɛda ho adi sɛ ɔyare a ɛyɛ nsonsonoe a ɛda ho adi sɛ abnormal hemoglobin gene no. Nkuto a wɔwɔ abnormal hemoglobin gene no (heterozygous) a wɔnya malaria no, wɔn ho bɔ mmɔden sɛ wɔbɛyɛ akwan a ɛyɛ den sen nnipa a wɔwɔ normal hemoglobin. SCD nkuto (homozygous) nso, wɔn ho bɔ mmɔden sɛ wɔbɛnya malaria, nanso sɛ wɔnya ɔyare no a, ɛyɛ den sɛ wɔbɛyɛ akwan a ɛyɛ den na ɛbɛyɛ ɔyare a ɛyɛ mmerɛ na ɛyɛ ɔhaw kɛse.
Genetics
[sesa]Sickle cell ɔyare no yɛ ɔyare a ɛda so yɛ autosomal recessive a ɛyɛ ɔkwan a ɛda ho adi sɛ aberewa ne ne nananom. Ɛsɛ sɛ nkuto abien a wɔwɔ ɔyare no mu no yɛ nsɛm a ɛyɛ pɛ (homozygous condition) na ɔbarima anaa ɔbea bi bɛyɛ ɔyare a ɛyɛ autosomal recessive. Ɔyare a wɔda ho adi no, ɔno de, ɔwɔ aberewa a wɔnyɛ ɔyare na wɔn nyinaa wɔ nkuto abien; ɔkɔmfo baako na ɔwɔ nkuto a ɛyɛ abɔne na baako nso yɛ dea ɛyɛ pɛ (heterozygous condition) na wɔfrɛ wɔn sɛ genetic carriers; wɔn ho mfa nsɛm biara nni ho. Sɛ aberewa mmienu wɔ sickle cell trait no a, abɔfra biara a wɔbɛwo no bɛyɛ 25% ɔhaw sɛ ɔbɛnya sickle cell ɔyare; 25% ɔhaw sɛ ɔrennya sickle cell alleles biara, na 50% ɔhaw sɛ ɔbɛyɛ heterozygous condition (hwɛ diagram no).
Gene a ɛyɛ mfomso no yɛ ntotoho a ɛda so yɛ nucleotide baako a ɛyɛ β-globin gene mu, a ɛma glutamate yɛ abɛyɛ valine wɔ β-globin chain no ɔkwan 6 so. Hemoglobin S a wɔde mfomso yi yɛ HbS, na ɛnyɛ ɔmanpanyin a ɛyɛ HbA. Sɛ ɔyare mu nsɛm a ɛyɛ mmerɛwyɛ a ɛda so yɛ oxygen a ɛda hɔ no, ɛnnyɛ ɔkwan biara a ɛda so yɛ hemoglobin anaa ne tumi de bɔ oxygen kɔ ɔhonam mu. Nanso, deoxy form a ɛyɛ HbS no wɔ hydrophobic patch a ɛda hɔ a ɛma HbS molecules no bɔ mu yɛ nan ntama tenten a ɛnyɛ mmerɛ. Sɛ nsɛm a ɛyɛ mmerɛwyɛ a ɛda so yɛ oxygen a ɛda hɔ wɔ mogya mu, sɛnea yɛyɛ adwuma, yɛda ho nsɛm, ɔkwan anaa nsuo a ɛda hɔ no, HbS polymerization no bɔ fibrous precipitates wɔ mmerɛ red blood cell mu. Wɔ nnipa a wɔyɛ homozygous ma sickle cell mutation no, sɛ long-chain polymers a ɛyɛ HbS d
a hɔ a ɛma red blood cell no ho yɛ den fi ɔkwan a ɛyɛ nsonsonoe, na ɛma ne ho yɛ den na ɛyɛ mmerɛ na ɛyɛ mmerɛ sɛnea ɛbɛda ho nsɛm anaa ɛbɛyɛ den wɔ capillaries mu.
Sickle cell disease (SCD) yɛ ɔyare a ɛyɛ mmerɛ na ɛda so yɛ nkutoo a ɛda ho adi sɛ ɛyɛ ɔyare a ɛyɛ nsonsonoe a ɛda ho adi sɛ malaria yɛ ɔyare a ɛda so yɛ ɔyare a ɛyɛ mmerɛ. Sickle cell trait no ma ɔbarima anaa ɔbea a ɔwɔ no tumi nya nkwa a ɛyɛ mmerɛ wɔ nsɛm a ɛfa malaria ho, sen nnipa a wɔwɔ normal hemoglobin wɔ mpɔtam anaa nsɛm a malaria da so yɛ ɔyare a ɛyɛ mmerɛ.
Malaria ɔyare no yɛ ɔyare a ɛda so yɛ ɔyare a ɛyɛ mmerɛ na ɛda ho adi sɛ ɔyare a ɛyɛ nsonsonoe a ɛda ho adi sɛ abnormal hemoglobin gene no. Nkuto a wɔwɔ abnormal hemoglobin gene no (heterozygous) a wɔnya malaria no, wɔn ho bɔ mmɔden sɛ wɔbɛyɛ akwan a ɛyɛ den sen nnipa a wɔwɔ normal hemoglobin. SCD nkuto (homozygous) nso, wɔn ho bɔ mmɔden sɛ wɔbɛnya malaria, nanso sɛ wɔnya ɔyare no a, ɛyɛ den sɛ wɔbɛyɛ akwan a ɛyɛ den na ɛbɛyɛ ɔyare a ɛyɛ mmerɛ na ɛyɛ ɔhaw kɛse.
Genetics
[sesa]
Hemoglobin yɛ ɔyɛn a ɛda ho adi sɛ ɔyare a ɛda so yɛ ɔkwan a ɛda ho adi sɛ aberewa ne ne nananom. Ɛyɛ ɔyɛn a ɛda ho adi sɛ ɔyɛn a ɛda ho adi sɛ aberewa ne ne nananom. Hemoglobin no yɛ ɔyɛn a ɛda ho adi sɛ ɔyɛn a ɛda ho adi sɛ aberewa ne ne nananom. Ɛyɛ ɔyɛn a ɛda ho adi sɛ ɔyɛn a ɛda ho adi sɛ aberewa ne ne nananom.
Sɛnea ɛda ho adi no, hemoglobin no wɔ protein subunits anan a wɔfrɛ no globins. Sɛnea ɛyɛ no, nkuto mmienu no yɛ alpha globins na nkuto mmienu no yɛ beta globins. Sɛnea ɛda ho adi no, hemoglobin no yɛ ɔyɛn a ɛda ho adi sɛ ɔyɛn a ɛda ho adi sɛ aberewa ne ne nananom.
Ná nnipa nyinaa wɔ hemoglobin a ɛyɛ pɛ, na ɛyɛ ɔkwan a ɛda ho adi sɛ aberewa.
Sickle cell ɔyare no yɛ ɔyare a ɛda so yɛ autosomal recessive a ɛyɛ ɔkwan a ɛda ho adi sɛ aberewa ne ne nananom. Ɛsɛ sɛ nkuto abien a wɔwɔ ɔyare no mu no yɛ nsɛm a ɛyɛ pɛ (homozygous condition) na ɔbarima anaa ɔbea bi bɛyɛ ɔyare a ɛyɛ autosomal recessive. Ɔyare a wɔda ho adi no, ɔno de, ɔwɔ aberewa a wɔnyɛ ɔyare na wɔn nyinaa wɔ nkuto abien; ɔkɔmfo baako na ɔwɔ nkuto a ɛyɛ abɔne na baako nso yɛ dea ɛyɛ pɛ (heterozygous condition) na wɔfrɛ wɔn sɛ genetic carriers; wɔn ho mfa nsɛm biara nni ho. Sɛ aberewa mmienu wɔ sickle cell trait no a, abɔfra biara a wɔbɛwo no bɛyɛ 25% ɔhaw sɛ ɔbɛnya sickle cell ɔyare; 25% ɔhaw sɛ ɔrennya sickle cell alleles biara, na 50% ɔhaw sɛ ɔbɛyɛ heterozygous condition (hwɛ diagram no).
Gene a ɛyɛ mfomso no yɛ ntotoho a ɛda so yɛ nucleotide baako a ɛyɛ β-globin gene mu, a ɛma glutamate yɛ abɛyɛ valine wɔ β-globin chain no ɔkwan 6 so. Hemoglobin S a wɔde mfomso yi yɛ HbS, na ɛnyɛ ɔmanpanyin a ɛyɛ HbA. Sɛ ɔyare mu nsɛm a ɛyɛ mmerɛwyɛ a ɛda so yɛ oxygen a ɛda hɔ no, ɛnnyɛ ɔkwan biara a ɛda so yɛ hemoglobin anaa ne tumi de bɔ oxygen kɔ ɔhonam mu. Nanso, deoxy form a ɛyɛ HbS no wɔ hydrophobic patch a ɛda hɔ a ɛma HbS molecules no bɔ mu yɛ nan ntama tenten a ɛnyɛ mmerɛ. Sɛ nsɛm a ɛyɛ mmerɛwyɛ a ɛda so yɛ oxygen a ɛda hɔ wɔ mogya mu, sɛnea yɛyɛ adwuma, yɛda ho nsɛm, ɔkwan anaa nsuo a ɛda hɔ no, HbS polymerization no bɔ fibrous precipitates wɔ mmerɛ red blood cell mu. Wɔ nnipa a wɔyɛ homozygous ma sickle cell mutation no, sɛ long-chain polymers a ɛyɛ HbS d
a hɔ a ɛma red blood cell no ho yɛ den fi ɔkwan a ɛyɛ nsonsonoe, na ɛma ne ho yɛ den na ɛyɛ mmerɛ na ɛyɛ mmerɛ sɛnea ɛbɛda ho nsɛm anaa ɛbɛyɛ den wɔ capillaries mu.
Sickle cell disease (SCD) yɛ ɔyare a ɛyɛ mmerɛ na ɛda so yɛ nkutoo a ɛda ho adi sɛ ɛyɛ ɔyare a ɛyɛ nsonsonoe a ɛda ho adi sɛ malaria yɛ ɔyare a ɛda so yɛ ɔyare a ɛyɛ mmerɛ. Sickle cell trait no ma ɔbarima anaa ɔbea a ɔwɔ no tumi nya nkwa a ɛyɛ mmerɛ wɔ nsɛm a ɛfa malaria ho, sen nnipa a wɔwɔ normal hemoglobin wɔ mpɔtam anaa nsɛm a malaria da so yɛ ɔyare a ɛyɛ mmerɛ.
Malaria ɔyare no yɛ ɔyare a ɛda so yɛ ɔyare a ɛyɛ mmerɛ na ɛda ho adi sɛ ɔyare a ɛyɛ nsonsonoe a ɛda ho adi sɛ abnormal hemoglobin gene no. Nkuto a wɔwɔ abnormal hemoglobin gene no (heterozygous) a wɔnya malaria no, wɔn ho bɔ mmɔden sɛ wɔbɛyɛ akwan a ɛyɛ den sen nnipa a wɔwɔ normal hemoglobin. SCD nkuto (homozygous) nso, wɔn ho bɔ mmɔden sɛ wɔbɛnya malaria, nanso sɛ wɔnya ɔyare no a, ɛyɛ den sɛ wɔbɛyɛ akwan a ɛyɛ den na ɛbɛyɛ ɔyare a ɛyɛ mmerɛ na ɛyɛ ɔhaw kɛse.
Genetics
[sesa]Hemoglobin yɛ ɔyɛn a ɛda ho adi sɛ ɔyare a ɛda so yɛ ɔkwan a ɛda ho adi sɛ aberewa ne ne nananom. Ɛyɛ ɔyɛn a ɛda ho adi sɛ ɔyɛn a ɛda ho adi sɛ aberewa ne ne nananom. Hemoglobin no yɛ ɔyɛn a ɛda ho adi sɛ ɔyɛn a ɛda ho adi sɛ aberewa ne ne nananom. Ɛyɛ ɔyɛn a ɛda ho adi sɛ ɔyɛn a ɛda ho adi sɛ aberewa ne ne nananom.
Sɛnea ɛda ho adi no, hemoglobin no wɔ protein subunits anan a wɔfrɛ no globins. Sɛnea ɛyɛ no, nkuto mmienu no yɛ alpha globins na nkuto mmienu no yɛ beta globins. Sɛnea ɛda ho adi no, hemoglobin no yɛ ɔyɛn a ɛda ho adi sɛ ɔyɛn a ɛda ho adi sɛ aberewa ne ne nananom.
Ná nnipa nyinaa wɔ hemoglobin a ɛyɛ pɛ, na ɛyɛ ɔkwan a ɛda ho adi sɛ aberewa.
Sickle cell ɔyare no yɛ ɔyare a ɛda so yɛ autosomal recessive a ɛyɛ ɔkwan a ɛda ho adi sɛ aberewa ne ne nananom. Ɛsɛ sɛ nkuto abien a wɔwɔ ɔyare no mu no yɛ nsɛm a ɛyɛ pɛ (homozygous condition) na ɔbarima anaa ɔbea bi bɛyɛ ɔyare a ɛyɛ autosomal recessive. Ɔyare a wɔda ho adi no, ɔno de, ɔwɔ aberewa a wɔnyɛ ɔyare na wɔn nyinaa wɔ nkuto abien; ɔkɔmfo baako na ɔwɔ nkuto a ɛyɛ abɔne na baako nso yɛ dea ɛyɛ pɛ (heterozygous condition) na wɔfrɛ wɔn sɛ genetic carriers; wɔn ho mfa nsɛm biara nni ho. Sɛ aberewa mmienu wɔ sickle cell trait no a, abɔfra biara a wɔbɛwo no bɛyɛ 25% ɔhaw sɛ ɔbɛnya sickle cell ɔyare; 25% ɔhaw sɛ ɔrennya sickle cell alleles biara, na 50% ɔhaw sɛ ɔbɛyɛ heterozygous condition (hwɛ diagram no).
Gene a ɛyɛ mfomso no yɛ ntotoho a ɛda so yɛ nucleotide baako a ɛyɛ β-globin gene mu, a ɛma glutamate yɛ abɛyɛ valine wɔ β-globin chain no ɔkwan 6 so. Hemoglobin S a wɔde mfomso yi yɛ HbS, na ɛnyɛ ɔmanpanyin a ɛyɛ HbA. Sɛ ɔyare mu nsɛm a ɛyɛ mmerɛwyɛ a ɛda so yɛ oxygen a ɛda hɔ no, ɛnnyɛ ɔkwan biara a ɛda so yɛ hemoglobin anaa ne tumi de bɔ oxygen kɔ ɔhonam mu. Nanso, deoxy form a ɛyɛ HbS no wɔ hydrophobic patch a ɛda hɔ a ɛma HbS molecules no bɔ mu yɛ nan ntama tenten a ɛnyɛ mmerɛ. Sɛ nsɛm a ɛyɛ mmerɛwyɛ a ɛda so yɛ oxygen a ɛda hɔ wɔ mogya mu, sɛnea yɛyɛ adwuma, yɛda ho nsɛm, ɔkwan anaa nsuo a ɛda hɔ no, HbS polymerization no bɔ fibrous precipitates wɔ mmerɛ red blood cell mu. Wɔ nnipa a wɔyɛ homozygous ma sickle cell mutation no, sɛ long-chain polymers a ɛyɛ HbS d
a hɔ a ɛma red blood cell no ho yɛ den fi ɔkwan a ɛyɛ nsonsonoe, na ɛma ne ho yɛ den na ɛyɛ mmerɛ na ɛyɛ mmerɛ sɛnea ɛbɛda ho nsɛm anaa ɛbɛyɛ den wɔ capillaries mu.
Sickle cell disease (SCD) yɛ ɔyare a ɛyɛ mmerɛ na ɛda so yɛ nkutoo a ɛda ho adi sɛ ɛyɛ ɔyare a ɛyɛ nsonsonoe a ɛda ho adi sɛ malaria yɛ ɔyare a ɛda so yɛ ɔyare a ɛyɛ mmerɛ. Sickle cell trait no ma ɔbarima anaa ɔbea a ɔwɔ no tumi nya nkwa a ɛyɛ mmerɛ wɔ nsɛm a ɛfa malaria ho, sen nnipa a wɔwɔ normal hemoglobin wɔ mpɔtam anaa nsɛm a malaria da so yɛ ɔyare a ɛyɛ mmerɛ.
Malaria ɔyare no yɛ ɔyare a ɛda so yɛ ɔyare a ɛyɛ mmerɛ na ɛda ho adi sɛ ɔyare a ɛyɛ nsonsonoe a ɛda ho adi sɛ abnormal hemoglobin gene no. Nkuto a wɔwɔ abnormal hemoglobin gene no (heterozygous) a wɔnya malaria no, wɔn ho bɔ mmɔden sɛ wɔbɛyɛ akwan a ɛyɛ den sen nnipa a wɔwɔ normal hemoglobin. SCD nkuto (homozygous) nso, wɔn ho bɔ mmɔden sɛ wɔbɛnya malaria, nanso sɛ wɔnya ɔyare no a, ɛyɛ den sɛ wɔbɛyɛ akwan a ɛyɛ den na ɛbɛyɛ ɔyare a ɛyɛ mmerɛ na ɛyɛ ɔhaw kɛse.
Genetics
[sesa]Hemoglobin yɛ ɔyɛn a ɛda ho adi sɛ ɔyare a ɛda so yɛ ɔkwan a ɛda ho adi sɛ aberewa ne ne nananom. Ɛyɛ ɔyɛn a ɛda ho adi sɛ ɔyɛn a ɛda ho adi sɛ aberewa ne ne nananom. Hemoglobin no yɛ ɔyɛn a ɛda ho adi sɛ ɔyɛn a ɛda ho adi sɛ aberewa ne ne nananom. Ɛyɛ ɔyɛn a ɛda ho adi sɛ ɔyɛn a ɛda ho adi sɛ aberewa ne ne nananom.
Sɛnea ɛda ho adi no, hemoglobin no wɔ protein subunits anan a wɔfrɛ no globins. Sɛnea ɛyɛ no, nkuto mmienu no yɛ alpha globins na nkuto mmienu no yɛ beta globins. Sɛnea ɛda ho adi no, hemoglobin no yɛ ɔyɛn a ɛda ho adi sɛ ɔyɛn a ɛda ho adi sɛ aberewa ne ne nananom.
Ná nnipa nyinaa wɔ hemoglobin a ɛyɛ pɛ, na ɛyɛ ɔkwan a ɛda ho adi sɛ aberewa.
- Hemoglobin F (HbF), a yɛ ɔyɛn a ɛda ho adi sɛ aberewa a ɛda ho adi sɛ ɔyɛn a ɛda ho adi sɛ aberewa ne ne nananom. Ɛyɛ hemoglobin a ɛyɛ aberewa mu, na ɛyɛ nkuto mmienu a ɛyɛ alpha (α-globin) ne nkuto mmienu a ɛyɛ gamma (γ-globin). Hemoglobin F no yɛ ɔkwan a ɛda ho adi sɛ aberewa no mu wɔ aberewa no mu na ɛda so yɛ ɔkwan a ɛda ho adi sɛ aberewa ne ne nananom.
Sɛnea aberewa no yɛ no, hemoglobin F no yɛ ɔkwan a ɛda ho adi sɛ aberewa no mu kɔsi nnawɔtwe nsia. Afei, hemoglobin A na ɛyɛ ɔkwan a ɛda ho adi sɛ aberewa ne ne nananom wɔ ɔman no mu. Hemoglobin A no bɛyɛ ɔkwan a ɛda ho adi sɛ aberewa ne ne nananom kɔsi ɔman no mu. - hemoglobin A, (Mpanyimfo hemoglobin, HbA) a ɛyɛ alpha abien ne beta (β-globin) nkɔnsɔnkɔnsɔn abien. Eyi ne nnipa hemoglobin tetramer a abu so sen biara, na ɛyɛ mogya mu nkwammoaa kɔkɔɔ hemoglobin nyinaa mu bɛboro 97% wɔ mpanyimfo a wɔte apɔw mu.
- hemoglobin A2, (HbA2) yɛ mpanyimfo hemoglobin a ɛto so abien na ɛyɛ alpha abien ne delta ( δ-globin ) nkɔnsɔnkɔnsɔn abien. Saa hemoglobin yi taa yɛ hemoglobin 1–3% wɔ mpanyimfo mu. [3]
β-globin yɛ ɔkwan a ɛda ho adi sɛ HBB gene a ɛwɔ ɔman no mu chromosome 11 so. Sɛ wɔyɛ nsɛm a ɛyɛ bɔne wɔ saa gene no mu a, ɛbɛma hemoglobin a ɛyɛ abɔnefoɔ a ɛda ho adi sɛ hemoglobins a ɛyɛ abɔnefoɔ. Nsɛm a ɛyɛ bɔne a ɛma sickle cell disease no yɛ nsɛm a ɛda ho adi sɛ hemoglobin a ɛyɛ abɔnefoɔ a wɔfrɛ no hemoglobin S (HbS), na eyi yɛ ɔkwan a ɛda ho adi sɛ HbA a ɛwɔ aberewa mu. Ɔman no mu genome no wɔ gene mmienu a ɛyɛ β-globin; wɔ nnipa a wɔwɔ sickle cell disease no, gene mmienu no nyinaa yɛ bɔne, na erythropoietic cells a ɛwɔ bone marrow no bɛyɛ HbS nko ara. Nnipa a wɔwɔ sickle cell trait no de, gene baako nko ara na ɛyɛ bɔne; erythropoiesis no bɛma mix a ɛyɛ HbA ne sickle HbS. Ɔbarima anaa ɔbea no bɛda ho adi sɛ ɔnni nsɛm kɛse biara fa sickle cell disease ho, nanso ɔwɔ gene no na ɔbɛtumi de ama ne mma.
Sickle cell ɔyare no yɛ ɔyare a ɛda so yɛ autosomal recessive a ɛyɛ ɔkwan a ɛda ho adi sɛ aberewa ne ne nananom. Ɛsɛ sɛ nkuto abien a wɔwɔ ɔyare no mu no yɛ nsɛm a ɛyɛ pɛ (homozygous condition) na ɔbarima anaa ɔbea bi bɛyɛ ɔyare a ɛyɛ autosomal recessive. Ɔyare a wɔda ho adi no, ɔno de, ɔwɔ aberewa a wɔnyɛ ɔyare na wɔn nyinaa wɔ nkuto abien; ɔkɔmfo baako na ɔwɔ nkuto a ɛyɛ abɔne na baako nso yɛ dea ɛyɛ pɛ (heterozygous condition) na wɔfrɛ wɔn sɛ genetic carriers; wɔn ho mfa nsɛm biara nni ho. Sɛ aberewa mmienu wɔ sickle cell trait no a, abɔfra biara a wɔbɛwo no bɛyɛ 25% ɔhaw sɛ ɔbɛnya sickle cell ɔyare; 25% ɔhaw sɛ ɔrennya sickle cell alleles biara, na 50% ɔhaw sɛ ɔbɛyɛ heterozygous condition (hwɛ diagram no).
Gene a ɛyɛ mfomso no yɛ ntotoho a ɛda so yɛ nucleotide baako a ɛyɛ β-globin gene mu, a ɛma glutamate yɛ abɛyɛ valine wɔ β-globin chain no ɔkwan 6 so. Hemoglobin S a wɔde mfomso yi yɛ HbS, na ɛnyɛ ɔmanpanyin a ɛyɛ HbA. Sɛ ɔyare mu nsɛm a ɛyɛ mmerɛwyɛ a ɛda so yɛ oxygen a ɛda hɔ no, ɛnnyɛ ɔkwan biara a ɛda so yɛ hemoglobin anaa ne tumi de bɔ oxygen kɔ ɔhonam mu. Nanso, deoxy form a ɛyɛ HbS no wɔ hydrophobic patch a ɛda hɔ a ɛma HbS molecules no bɔ mu yɛ nan ntama tenten a ɛnyɛ mmerɛ. Sɛ nsɛm a ɛyɛ mmerɛwyɛ a ɛda so yɛ oxygen a ɛda hɔ wɔ mogya mu, sɛnea yɛyɛ adwuma, yɛda ho nsɛm, ɔkwan anaa nsuo a ɛda hɔ no, HbS polymerization no bɔ fibrous precipitates wɔ mmerɛ red blood cell mu. Wɔ nnipa a wɔyɛ homozygous ma sickle cell mutation no, sɛ long-chain polymers a ɛyɛ HbS d
a hɔ a ɛma red blood cell no ho yɛ den fi ɔkwan a ɛyɛ nsonsonoe, na ɛma ne ho yɛ den na ɛyɛ mmerɛ na ɛyɛ mmerɛ sɛnea ɛbɛda ho nsɛm anaa ɛbɛyɛ den wɔ capillaries mu.
Sickle cell disease (SCD) yɛ ɔyare a ɛyɛ mmerɛ na ɛda so yɛ nkutoo a ɛda ho adi sɛ ɛyɛ ɔyare a ɛyɛ nsonsonoe a ɛda ho adi sɛ malaria yɛ ɔyare a ɛda so yɛ ɔyare a ɛyɛ mmerɛ. Sickle cell trait no ma ɔbarima anaa ɔbea a ɔwɔ no tumi nya nkwa a ɛyɛ mmerɛ wɔ nsɛm a ɛfa malaria ho, sen nnipa a wɔwɔ normal hemoglobin wɔ mpɔtam anaa nsɛm a malaria da so yɛ ɔyare a ɛyɛ mmerɛ.
Malaria ɔyare no yɛ ɔyare a ɛda so yɛ ɔyare a ɛyɛ mmerɛ na ɛda ho adi sɛ ɔyare a ɛyɛ nsonsonoe a ɛda ho adi sɛ abnormal hemoglobin gene no. Nkuto a wɔwɔ abnormal hemoglobin gene no (heterozygous) a wɔnya malaria no, wɔn ho bɔ mmɔden sɛ wɔbɛyɛ akwan a ɛyɛ den sen nnipa a wɔwɔ normal hemoglobin. SCD nkuto (homozygous) nso, wɔn ho bɔ mmɔden sɛ wɔbɛnya malaria, nanso sɛ wɔnya ɔyare no a, ɛyɛ den sɛ wɔbɛyɛ akwan a ɛyɛ den na ɛbɛyɛ ɔyare a ɛyɛ mmerɛ na ɛyɛ ɔhaw kɛse.
Genetics
[sesa]Hemoglobin yɛ ɔyɛn a ɛda ho adi sɛ ɔyare a ɛda so yɛ ɔkwan a ɛda ho adi sɛ aberewa ne ne nananom. Ɛyɛ ɔyɛn a ɛda ho adi sɛ ɔyɛn a ɛda ho adi sɛ aberewa ne ne nananom. Hemoglobin no yɛ ɔyɛn a ɛda ho adi sɛ ɔyɛn a ɛda ho adi sɛ aberewa ne ne nananom. Ɛyɛ ɔyɛn a ɛda ho adi sɛ ɔyɛn a ɛda ho adi sɛ aberewa ne ne nananom.
Sɛnea ɛda ho adi no, hemoglobin no wɔ protein subunits anan a wɔfrɛ no globins. Sɛnea ɛyɛ no, nkuto mmienu no yɛ alpha globins na nkuto mmienu no yɛ beta globins. Sɛnea ɛda ho adi no, hemoglobin no yɛ ɔyɛn a ɛda ho adi sɛ ɔyɛn a ɛda ho adi sɛ aberewa ne ne nananom.
Ná nnipa nyinaa wɔ hemoglobin a ɛyɛ pɛ, na ɛyɛ ɔkwan a ɛda ho adi sɛ aberewa.
- Hemoglobin F (HbF), a yɛ ɔyɛn a ɛda ho adi sɛ aberewa a ɛda ho adi sɛ ɔyɛn a ɛda ho adi sɛ aberewa ne ne nananom. Ɛyɛ hemoglobin a ɛyɛ aberewa mu, na ɛyɛ nkuto mmienu a ɛyɛ alpha (α-globin) ne nkuto mmienu a ɛyɛ gamma (γ-globin). Hemoglobin F no yɛ ɔkwan a ɛda ho adi sɛ aberewa no mu wɔ aberewa no mu na ɛda so yɛ ɔkwan a ɛda ho adi sɛ aberewa ne ne nananom.
Sɛnea aberewa no yɛ no, hemoglobin F no yɛ ɔkwan a ɛda ho adi sɛ aberewa no mu kɔsi nnawɔtwe nsia. Afei, hemoglobin A na ɛyɛ ɔkwan a ɛda ho adi sɛ aberewa ne ne nananom wɔ ɔman no mu. Hemoglobin A no bɛyɛ ɔkwan a ɛda ho adi sɛ aberewa ne ne nananom kɔsi ɔman no mu. - hemoglobin A, (Mpanyimfo hemoglobin, HbA) a ɛyɛ alpha abien ne beta (β-globin) nkɔnsɔnkɔnsɔn abien. Eyi ne nnipa hemoglobin tetramer a abu so sen biara, na ɛyɛ mogya mu nkwammoaa kɔkɔɔ hemoglobin nyinaa mu bɛboro 97% wɔ mpanyimfo a wɔte apɔw mu.
- hemoglobin A2, (HbA2) yɛ mpanyimfo hemoglobin a ɛto so abien na ɛyɛ alpha abien ne delta ( δ-globin ) nkɔnsɔnkɔnsɔn abien. Saa hemoglobin yi taa yɛ hemoglobin 1–3% wɔ mpanyimfo mu. [3]
β-globin yɛ ɔkwan a ɛda ho adi sɛ HBB gene a ɛwɔ ɔman no mu chromosome 11 so. Sɛ wɔyɛ nsɛm a ɛyɛ bɔne wɔ saa gene no mu a, ɛbɛma hemoglobin a ɛyɛ abɔnefoɔ a ɛda ho adi sɛ hemoglobins a ɛyɛ abɔnefoɔ. Nsɛm a ɛyɛ bɔne a ɛma sickle cell disease no yɛ nsɛm a ɛda ho adi sɛ hemoglobin a ɛyɛ abɔnefoɔ a wɔfrɛ no hemoglobin S (HbS), na eyi yɛ ɔkwan a ɛda ho adi sɛ HbA a ɛwɔ aberewa mu. Ɔman no mu genome no wɔ gene mmienu a ɛyɛ β-globin; wɔ nnipa a wɔwɔ sickle cell disease no, gene mmienu no nyinaa yɛ bɔne, na erythropoietic cells a ɛwɔ bone marrow no bɛyɛ HbS nko ara. Nnipa a wɔwɔ sickle cell trait no de, gene baako nko ara na ɛyɛ bɔne; erythropoiesis no bɛma mix a ɛyɛ HbA ne sickle HbS. Ɔbarima anaa ɔbea no bɛda ho adi sɛ ɔnni nsɛm kɛse biara fa sickle cell disease ho, nanso ɔwɔ gene no na ɔbɛtumi de ama ne mma.
Sickle cell ɔyare no yɛ ɔyare a ɛda so yɛ autosomal recessive a ɛyɛ ɔkwan a ɛda ho adi sɛ aberewa ne ne nananom. Ɛsɛ sɛ nkuto abien a wɔwɔ ɔyare no mu no yɛ nsɛm a ɛyɛ pɛ (homozygous condition) na ɔbarima anaa ɔbea bi bɛyɛ ɔyare a ɛyɛ autosomal recessive. Ɔyare a wɔda ho adi no, ɔno de, ɔwɔ aberewa a wɔnyɛ ɔyare na wɔn nyinaa wɔ nkuto abien; ɔkɔmfo baako na ɔwɔ nkuto a ɛyɛ abɔne na baako nso yɛ dea ɛyɛ pɛ (heterozygous condition) na wɔfrɛ wɔn sɛ genetic carriers; wɔn ho mfa nsɛm biara nni ho. Sɛ aberewa mmienu wɔ sickle cell trait no a, abɔfra biara a wɔbɛwo no bɛyɛ 25% ɔhaw sɛ ɔbɛnya sickle cell ɔyare; 25% ɔhaw sɛ ɔrennya sickle cell alleles biara, na 50% ɔhaw sɛ ɔbɛyɛ heterozygous condition (hwɛ diagram no).
Sickle cell gene mutation no wɔ haplotypes a ɛyɛ foforɔ na ɛda ho adi sɛ ɛyɛ ɔkwan a ɛda ho adi sɛ ɛyɛ bɔne a ɛbɛyɛɛ ɔkwan a ɛda ho adi sɛ ɛyɛ bɔne wɔ mpɔtam anaa ɔman a ɛyɛ foforɔ mu. Nsɛm a ɛyɛ bɔne no yɛ Cameroon, Senegal, Benin, Bantu, ne Saudi-Asian. Saa nsɛm yi yɛ nea ɛho hia na ɛyɛ nokware sɛ nsɛm a ɛda ho adi sɛ ɛyɛ bɔne no bi yɛ nsɛm a ɛda ho adi sɛ ɛyɛ abɔnefoɔ a wɔwɔ HbF (fetal hemoglobin) kɛse a ɛda ho adi sɛ Senegal ne Saudi-Asian variants, na wɔn a wɔwɔ saa nsɛm yi mu no bɛda ho adi sɛ wɔn yare no yɛ kakra.
Gene a ɛyɛ mfomso no yɛ ntotoho a ɛda so yɛ nucleotide baako a ɛyɛ β-globin gene mu, a ɛma glutamate yɛ abɛyɛ valine wɔ β-globin chain no ɔkwan 6 so. Hemoglobin S a wɔde mfomso yi yɛ HbS, na ɛnyɛ ɔmanpanyin a ɛyɛ HbA. Sɛ ɔyare mu nsɛm a ɛyɛ mmerɛwyɛ a ɛda so yɛ oxygen a ɛda hɔ no, ɛnnyɛ ɔkwan biara a ɛda so yɛ hemoglobin anaa ne tumi de bɔ oxygen kɔ ɔhonam mu. Nanso, deoxy form a ɛyɛ HbS no wɔ hydrophobic patch a ɛda hɔ a ɛma HbS molecules no bɔ mu yɛ nan ntama tenten a ɛnyɛ mmerɛ. Sɛ nsɛm a ɛyɛ mmerɛwyɛ a ɛda so yɛ oxygen a ɛda hɔ wɔ mogya mu, sɛnea yɛyɛ adwuma, yɛda ho nsɛm, ɔkwan anaa nsuo a ɛda hɔ no, HbS polymerization no bɔ fibrous precipitates wɔ mmerɛ red blood cell mu. Wɔ nnipa a wɔyɛ homozygous ma sickle cell mutation no, sɛ long-chain polymers a ɛyɛ HbS d
a hɔ a ɛma red blood cell no ho yɛ den fi ɔkwan a ɛyɛ nsonsonoe, na ɛma ne ho yɛ den na ɛyɛ mmerɛ na ɛyɛ mmerɛ sɛnea ɛbɛda ho nsɛm anaa ɛbɛyɛ den wɔ capillaries mu.
Wɔ nnipa a wɔyɛ heterozygous ma HbS ( a wɔde sickle cell yare) ba mu no, polymerisation ho haw ahorow no sua efisɛ allele a ɛteɛ no tumi yɛ haemoglobin no fã. Sɛ wɔmma wɔn oxygen (sɛ nhwɛso no, wɔ mmeae a ɛkorɔn) anaasɛ bere a nsu nni wɔn mu kɛse nkutoo a, na wɔn a wɔde sickle cell kɔ no nya yare no ho sɛnkyerɛnne .
Malaria a ɛma obi nya ɔyare mmoawa
[sesa]Sickle cell disease (SCD) yɛ ɔyare a ɛyɛ mmerɛ na ɛda so yɛ nkutoo a ɛda ho adi sɛ ɛyɛ ɔyare a ɛyɛ nsonsonoe a ɛda ho adi sɛ malaria yɛ ɔyare a ɛda so yɛ ɔyare a ɛyɛ mmerɛ. Sickle cell trait no ma ɔbarima anaa ɔbea a ɔwɔ no tumi nya nkwa a ɛyɛ mmerɛ wɔ nsɛm a ɛfa malaria ho, sen nnipa a wɔwɔ normal hemoglobin wɔ mpɔtam anaa nsɛm a malaria da so yɛ ɔyare a ɛyɛ mmerɛ.
Malaria ɔyare no yɛ ɔyare a ɛda so yɛ ɔyare a ɛyɛ mmerɛ na ɛda ho adi sɛ ɔyare a ɛyɛ nsonsonoe a ɛda ho adi sɛ abnormal hemoglobin gene no. Nkuto a wɔwɔ abnormal hemoglobin gene no (heterozygous) a wɔnya malaria no, wɔn ho bɔ mmɔden sɛ wɔbɛyɛ akwan a ɛyɛ den sen nnipa a wɔwɔ normal hemoglobin. SCD nkuto (homozygous) nso, wɔn ho bɔ mmɔden sɛ wɔbɛnya malaria, nanso sɛ wɔnya ɔyare no a, ɛyɛ den sɛ wɔbɛyɛ akwan a ɛyɛ den na ɛbɛyɛ ɔyare a ɛyɛ mmerɛ na ɛyɛ ɔhaw kɛse.
Genetics
[sesa]Hemoglobin yɛ ɔyɛn a ɛda ho adi sɛ ɔyare a ɛda so yɛ ɔkwan a ɛda ho adi sɛ aberewa ne ne nananom. Ɛyɛ ɔyɛn a ɛda ho adi sɛ ɔyɛn a ɛda ho adi sɛ aberewa ne ne nananom. Hemoglobin no yɛ ɔyɛn a ɛda ho adi sɛ ɔyɛn a ɛda ho adi sɛ aberewa ne ne nananom. Ɛyɛ ɔyɛn a ɛda ho adi sɛ ɔyɛn a ɛda ho adi sɛ aberewa ne ne nananom.
Sɛnea ɛda ho adi no, hemoglobin no wɔ protein subunits anan a wɔfrɛ no globins. Sɛnea ɛyɛ no, nkuto mmienu no yɛ alpha globins na nkuto mmienu no yɛ beta globins. Sɛnea ɛda ho adi no, hemoglobin no yɛ ɔyɛn a ɛda ho adi sɛ ɔyɛn a ɛda ho adi sɛ aberewa ne ne nananom.
Ná nnipa nyinaa wɔ hemoglobin a ɛyɛ pɛ, na ɛyɛ ɔkwan a ɛda ho adi sɛ aberewa.
- Hemoglobin F (HbF), a yɛ ɔyɛn a ɛda ho adi sɛ aberewa a ɛda ho adi sɛ ɔyɛn a ɛda ho adi sɛ aberewa ne ne nananom. Ɛyɛ hemoglobin a ɛyɛ aberewa mu, na ɛyɛ nkuto mmienu a ɛyɛ alpha (α-globin) ne nkuto mmienu a ɛyɛ gamma (γ-globin). Hemoglobin F no yɛ ɔkwan a ɛda ho adi sɛ aberewa no mu wɔ aberewa no mu na ɛda so yɛ ɔkwan a ɛda ho adi sɛ aberewa ne ne nananom.
Sɛnea aberewa no yɛ no, hemoglobin F no yɛ ɔkwan a ɛda ho adi sɛ aberewa no mu kɔsi nnawɔtwe nsia. Afei, hemoglobin A na ɛyɛ ɔkwan a ɛda ho adi sɛ aberewa ne ne nananom wɔ ɔman no mu. Hemoglobin A no bɛyɛ ɔkwan a ɛda ho adi sɛ aberewa ne ne nananom kɔsi ɔman no mu. - hemoglobin A, (Mpanyimfo hemoglobin, HbA) a ɛyɛ alpha abien ne beta (β-globin) nkɔnsɔnkɔnsɔn abien. Eyi ne nnipa hemoglobin tetramer a abu so sen biara, na ɛyɛ mogya mu nkwammoaa kɔkɔɔ hemoglobin nyinaa mu bɛboro 97% wɔ mpanyimfo a wɔte apɔw mu.
- hemoglobin A2, (HbA2) yɛ mpanyimfo hemoglobin a ɛto so abien na ɛyɛ alpha abien ne delta ( δ-globin ) nkɔnsɔnkɔnsɔn abien. Saa hemoglobin yi taa yɛ hemoglobin 1–3% wɔ mpanyimfo mu. [3]
β-globin yɛ ɔkwan a ɛda ho adi sɛ HBB gene a ɛwɔ ɔman no mu chromosome 11 so. Sɛ wɔyɛ nsɛm a ɛyɛ bɔne wɔ saa gene no mu a, ɛbɛma hemoglobin a ɛyɛ abɔnefoɔ a ɛda ho adi sɛ hemoglobins a ɛyɛ abɔnefoɔ. Nsɛm a ɛyɛ bɔne a ɛma sickle cell disease no yɛ nsɛm a ɛda ho adi sɛ hemoglobin a ɛyɛ abɔnefoɔ a wɔfrɛ no hemoglobin S (HbS), na eyi yɛ ɔkwan a ɛda ho adi sɛ HbA a ɛwɔ aberewa mu. Ɔman no mu genome no wɔ gene mmienu a ɛyɛ β-globin; wɔ nnipa a wɔwɔ sickle cell disease no, gene mmienu no nyinaa yɛ bɔne, na erythropoietic cells a ɛwɔ bone marrow no bɛyɛ HbS nko ara. Nnipa a wɔwɔ sickle cell trait no de, gene baako nko ara na ɛyɛ bɔne; erythropoiesis no bɛma mix a ɛyɛ HbA ne sickle HbS. Ɔbarima anaa ɔbea no bɛda ho adi sɛ ɔnni nsɛm kɛse biara fa sickle cell disease ho, nanso ɔwɔ gene no na ɔbɛtumi de ama ne mma.
Sickle cell ɔyare no yɛ ɔyare a ɛda so yɛ autosomal recessive a ɛyɛ ɔkwan a ɛda ho adi sɛ aberewa ne ne nananom. Ɛsɛ sɛ nkuto abien a wɔwɔ ɔyare no mu no yɛ nsɛm a ɛyɛ pɛ (homozygous condition) na ɔbarima anaa ɔbea bi bɛyɛ ɔyare a ɛyɛ autosomal recessive. Ɔyare a wɔda ho adi no, ɔno de, ɔwɔ aberewa a wɔnyɛ ɔyare na wɔn nyinaa wɔ nkuto abien; ɔkɔmfo baako na ɔwɔ nkuto a ɛyɛ abɔne na baako nso yɛ dea ɛyɛ pɛ (heterozygous condition) na wɔfrɛ wɔn sɛ genetic carriers; wɔn ho mfa nsɛm biara nni ho. Sɛ aberewa mmienu wɔ sickle cell trait no a, abɔfra biara a wɔbɛwo no bɛyɛ 25% ɔhaw sɛ ɔbɛnya sickle cell ɔyare; 25% ɔhaw sɛ ɔrennya sickle cell alleles biara, na 50% ɔhaw sɛ ɔbɛyɛ heterozygous condition (hwɛ diagram no).
Sickle cell gene mutation no wɔ haplotypes a ɛyɛ foforɔ na ɛda ho adi sɛ ɛyɛ ɔkwan a ɛda ho adi sɛ ɛyɛ bɔne a ɛbɛyɛɛ ɔkwan a ɛda ho adi sɛ ɛyɛ bɔne wɔ mpɔtam anaa ɔman a ɛyɛ foforɔ mu. Nsɛm a ɛyɛ bɔne no yɛ Cameroon, Senegal, Benin, Bantu, ne Saudi-Asian. Saa nsɛm yi yɛ nea ɛho hia na ɛyɛ nokware sɛ nsɛm a ɛda ho adi sɛ ɛyɛ bɔne no bi yɛ nsɛm a ɛda ho adi sɛ ɛyɛ abɔnefoɔ a wɔwɔ HbF (fetal hemoglobin) kɛse a ɛda ho adi sɛ Senegal ne Saudi-Asian variants, na wɔn a wɔwɔ saa nsɛm yi mu no bɛda ho adi sɛ wɔn yare no yɛ kakra.
Gene a ɛyɛ mfomso no yɛ ntotoho a ɛda so yɛ nucleotide baako a ɛyɛ β-globin gene mu, a ɛma glutamate yɛ abɛyɛ valine wɔ β-globin chain no ɔkwan 6 so. Hemoglobin S a wɔde mfomso yi yɛ HbS, na ɛnyɛ ɔmanpanyin a ɛyɛ HbA. Sɛ ɔyare mu nsɛm a ɛyɛ mmerɛwyɛ a ɛda so yɛ oxygen a ɛda hɔ no, ɛnnyɛ ɔkwan biara a ɛda so yɛ hemoglobin anaa ne tumi de bɔ oxygen kɔ ɔhonam mu. Nanso, deoxy form a ɛyɛ HbS no wɔ hydrophobic patch a ɛda hɔ a ɛma HbS molecules no bɔ mu yɛ nan ntama tenten a ɛnyɛ mmerɛ. Sɛ nsɛm a ɛyɛ mmerɛwyɛ a ɛda so yɛ oxygen a ɛda hɔ wɔ mogya mu, sɛnea yɛyɛ adwuma, yɛda ho nsɛm, ɔkwan anaa nsuo a ɛda hɔ no, HbS polymerization no bɔ fibrous precipitates wɔ mmerɛ red blood cell mu. Wɔ nnipa a wɔyɛ homozygous ma sickle cell mutation no, sɛ long-chain polymers a ɛyɛ HbS d
a hɔ a ɛma red blood cell no ho yɛ den fi ɔkwan a ɛyɛ nsonsonoe, na ɛma ne ho yɛ den na ɛyɛ mmerɛ na ɛyɛ mmerɛ sɛnea ɛbɛda ho nsɛm anaa ɛbɛyɛ den wɔ capillaries mu.
Wɔ nnipa a wɔyɛ heterozygous ma HbS ( a wɔde sickle cell yare) ba mu no, polymerisation ho haw ahorow no sua efisɛ allele a ɛteɛ no tumi yɛ haemoglobin no fã. Sɛ wɔmma wɔn oxygen (sɛ nhwɛso no, wɔ mmeae a ɛkorɔn) anaasɛ bere a nsu nni wɔn mu kɛse nkutoo a, na wɔn a wɔde sickle cell kɔ no nya yare no ho sɛnkyerɛnne .
Malaria a ɛma obi nya ɔyare mmoawa
[sesa]Sickle cell disease (SCD) yɛ ɔyare a ɛyɛ mmerɛ na ɛda so yɛ nkutoo a ɛda ho adi sɛ ɛyɛ ɔyare a ɛyɛ nsonsonoe a ɛda ho adi sɛ malaria yɛ ɔyare a ɛda so yɛ ɔyare a ɛyɛ mmerɛ. Sickle cell trait no ma ɔbarima anaa ɔbea a ɔwɔ no tumi nya nkwa a ɛyɛ mmerɛ wɔ nsɛm a ɛfa malaria ho, sen nnipa a wɔwɔ normal hemoglobin wɔ mpɔtam anaa nsɛm a malaria da so yɛ ɔyare a ɛyɛ mmerɛ.
Malaria ɔyare no yɛ ɔyare a ɛda so yɛ ɔyare a ɛyɛ mmerɛ na ɛda ho adi sɛ ɔyare a ɛyɛ nsonsonoe a ɛda ho adi sɛ abnormal hemoglobin gene no. Nkuto a wɔwɔ abnormal hemoglobin gene no (heterozygous) a wɔnya malaria no, wɔn ho bɔ mmɔden sɛ wɔbɛyɛ akwan a ɛyɛ den sen nnipa a wɔwɔ normal hemoglobin. SCD nkuto (homozygous) nso, wɔn ho bɔ mmɔden sɛ wɔbɛnya malaria, nanso sɛ wɔnya ɔyare no a, ɛyɛ den sɛ wɔbɛyɛ akwan a ɛyɛ den na ɛbɛyɛ ɔyare a ɛyɛ mmerɛ na ɛyɛ ɔhaw kɛse.
Sickle cell anemia ho nsɛm a ɛfa malaria ho yɛ ɔkwan a ɛda ho adi sɛ nsɛm a ɛda ho adi sɛ ɛyɛ bɔne a ɛda ho adi sɛ ɛyɛ abɔnefoɔ ne nsɛm a ɛda ho adi sɛ ɛyɛ bɔne no mu. Sɛnea ɛyɛ a, wɔn a wɔwɔ sickle cell homozygous (ɛyɛ abɔnefoɔ) no, wɔn nkwa da mu yɛ kakra, na eyi bɛyɛ sɛ ɛbɛma ɔkwan a ɛda ho adi sɛ ɛyɛ bɔne no nyɛ yiye. Nanso, wɔ mpɔtam a malaria yɛ bɔne kɛse no, sickle cell trait no da so yɛ hɔ efisɛ heterozygous (ɛyɛ abɔnefoɔ ne ɔkwan a ɛda ho adi sɛ ɛyɛ bɔne) no ma wɔn a wɔwɔ saa nsɛm yi mu no nya mfaso. Eyi yɛ ɔkwan a ɛda ho adi sɛ abatoɔ a ɛyɛ nokware wɔ ɔbra mu.
Genetics
[sesa]Hemoglobin yɛ ɔyɛn a ɛda ho adi sɛ ɔyare a ɛda so yɛ ɔkwan a ɛda ho adi sɛ aberewa ne ne nananom. Ɛyɛ ɔyɛn a ɛda ho adi sɛ ɔyɛn a ɛda ho adi sɛ aberewa ne ne nananom. Hemoglobin no yɛ ɔyɛn a ɛda ho adi sɛ ɔyɛn a ɛda ho adi sɛ aberewa ne ne nananom. Ɛyɛ ɔyɛn a ɛda ho adi sɛ ɔyɛn a ɛda ho adi sɛ aberewa ne ne nananom.
Sɛnea ɛda ho adi no, hemoglobin no wɔ protein subunits anan a wɔfrɛ no globins. Sɛnea ɛyɛ no, nkuto mmienu no yɛ alpha globins na nkuto mmienu no yɛ beta globins. Sɛnea ɛda ho adi no, hemoglobin no yɛ ɔyɛn a ɛda ho adi sɛ ɔyɛn a ɛda ho adi sɛ aberewa ne ne nananom.
Ná nnipa nyinaa wɔ hemoglobin a ɛyɛ pɛ, na ɛyɛ ɔkwan a ɛda ho adi sɛ aberewa.
- Hemoglobin F (HbF), a yɛ ɔyɛn a ɛda ho adi sɛ aberewa a ɛda ho adi sɛ ɔyɛn a ɛda ho adi sɛ aberewa ne ne nananom. Ɛyɛ hemoglobin a ɛyɛ aberewa mu, na ɛyɛ nkuto mmienu a ɛyɛ alpha (α-globin) ne nkuto mmienu a ɛyɛ gamma (γ-globin). Hemoglobin F no yɛ ɔkwan a ɛda ho adi sɛ aberewa no mu wɔ aberewa no mu na ɛda so yɛ ɔkwan a ɛda ho adi sɛ aberewa ne ne nananom.
Sɛnea aberewa no yɛ no, hemoglobin F no yɛ ɔkwan a ɛda ho adi sɛ aberewa no mu kɔsi nnawɔtwe nsia. Afei, hemoglobin A na ɛyɛ ɔkwan a ɛda ho adi sɛ aberewa ne ne nananom wɔ ɔman no mu. Hemoglobin A no bɛyɛ ɔkwan a ɛda ho adi sɛ aberewa ne ne nananom kɔsi ɔman no mu. - hemoglobin A, (Mpanyimfo hemoglobin, HbA) a ɛyɛ alpha abien ne beta (β-globin) nkɔnsɔnkɔnsɔn abien. Eyi ne nnipa hemoglobin tetramer a abu so sen biara, na ɛyɛ mogya mu nkwammoaa kɔkɔɔ hemoglobin nyinaa mu bɛboro 97% wɔ mpanyimfo a wɔte apɔw mu.
- hemoglobin A2, (HbA2) yɛ mpanyimfo hemoglobin a ɛto so abien na ɛyɛ alpha abien ne delta ( δ-globin ) nkɔnsɔnkɔnsɔn abien. Saa hemoglobin yi taa yɛ hemoglobin 1–3% wɔ mpanyimfo mu. [3]
β-globin yɛ ɔkwan a ɛda ho adi sɛ HBB gene a ɛwɔ ɔman no mu chromosome 11 so. Sɛ wɔyɛ nsɛm a ɛyɛ bɔne wɔ saa gene no mu a, ɛbɛma hemoglobin a ɛyɛ abɔnefoɔ a ɛda ho adi sɛ hemoglobins a ɛyɛ abɔnefoɔ. Nsɛm a ɛyɛ bɔne a ɛma sickle cell disease no yɛ nsɛm a ɛda ho adi sɛ hemoglobin a ɛyɛ abɔnefoɔ a wɔfrɛ no hemoglobin S (HbS), na eyi yɛ ɔkwan a ɛda ho adi sɛ HbA a ɛwɔ aberewa mu. Ɔman no mu genome no wɔ gene mmienu a ɛyɛ β-globin; wɔ nnipa a wɔwɔ sickle cell disease no, gene mmienu no nyinaa yɛ bɔne, na erythropoietic cells a ɛwɔ bone marrow no bɛyɛ HbS nko ara. Nnipa a wɔwɔ sickle cell trait no de, gene baako nko ara na ɛyɛ bɔne; erythropoiesis no bɛma mix a ɛyɛ HbA ne sickle HbS. Ɔbarima anaa ɔbea no bɛda ho adi sɛ ɔnni nsɛm kɛse biara fa sickle cell disease ho, nanso ɔwɔ gene no na ɔbɛtumi de ama ne mma.
Sickle cell ɔyare no yɛ ɔyare a ɛda so yɛ autosomal recessive a ɛyɛ ɔkwan a ɛda ho adi sɛ aberewa ne ne nananom. Ɛsɛ sɛ nkuto abien a wɔwɔ ɔyare no mu no yɛ nsɛm a ɛyɛ pɛ (homozygous condition) na ɔbarima anaa ɔbea bi bɛyɛ ɔyare a ɛyɛ autosomal recessive. Ɔyare a wɔda ho adi no, ɔno de, ɔwɔ aberewa a wɔnyɛ ɔyare na wɔn nyinaa wɔ nkuto abien; ɔkɔmfo baako na ɔwɔ nkuto a ɛyɛ abɔne na baako nso yɛ dea ɛyɛ pɛ (heterozygous condition) na wɔfrɛ wɔn sɛ genetic carriers; wɔn ho mfa nsɛm biara nni ho. Sɛ aberewa mmienu wɔ sickle cell trait no a, abɔfra biara a wɔbɛwo no bɛyɛ 25% ɔhaw sɛ ɔbɛnya sickle cell ɔyare; 25% ɔhaw sɛ ɔrennya sickle cell alleles biara, na 50% ɔhaw sɛ ɔbɛyɛ heterozygous condition (hwɛ diagram no).
Sickle cell gene mutation no wɔ haplotypes a ɛyɛ foforɔ na ɛda ho adi sɛ ɛyɛ ɔkwan a ɛda ho adi sɛ ɛyɛ bɔne a ɛbɛyɛɛ ɔkwan a ɛda ho adi sɛ ɛyɛ bɔne wɔ mpɔtam anaa ɔman a ɛyɛ foforɔ mu. Nsɛm a ɛyɛ bɔne no yɛ Cameroon, Senegal, Benin, Bantu, ne Saudi-Asian. Saa nsɛm yi yɛ nea ɛho hia na ɛyɛ nokware sɛ nsɛm a ɛda ho adi sɛ ɛyɛ bɔne no bi yɛ nsɛm a ɛda ho adi sɛ ɛyɛ abɔnefoɔ a wɔwɔ HbF (fetal hemoglobin) kɛse a ɛda ho adi sɛ Senegal ne Saudi-Asian variants, na wɔn a wɔwɔ saa nsɛm yi mu no bɛda ho adi sɛ wɔn yare no yɛ kakra.
Gene a ɛyɛ mfomso no yɛ ntotoho a ɛda so yɛ nucleotide baako a ɛyɛ β-globin gene mu, a ɛma glutamate yɛ abɛyɛ valine wɔ β-globin chain no ɔkwan 6 so. Hemoglobin S a wɔde mfomso yi yɛ HbS, na ɛnyɛ ɔmanpanyin a ɛyɛ HbA. Sɛ ɔyare mu nsɛm a ɛyɛ mmerɛwyɛ a ɛda so yɛ oxygen a ɛda hɔ no, ɛnnyɛ ɔkwan biara a ɛda so yɛ hemoglobin anaa ne tumi de bɔ oxygen kɔ ɔhonam mu. Nanso, deoxy form a ɛyɛ HbS no wɔ hydrophobic patch a ɛda hɔ a ɛma HbS molecules no bɔ mu yɛ nan ntama tenten a ɛnyɛ mmerɛ. Sɛ nsɛm a ɛyɛ mmerɛwyɛ a ɛda so yɛ oxygen a ɛda hɔ wɔ mogya mu, sɛnea yɛyɛ adwuma, yɛda ho nsɛm, ɔkwan anaa nsuo a ɛda hɔ no, HbS polymerization no bɔ fibrous precipitates wɔ mmerɛ red blood cell mu. Wɔ nnipa a wɔyɛ homozygous ma sickle cell mutation no, sɛ long-chain polymers a ɛyɛ HbS d
a hɔ a ɛma red blood cell no ho yɛ den fi ɔkwan a ɛyɛ nsonsonoe, na ɛma ne ho yɛ den na ɛyɛ mmerɛ na ɛyɛ mmerɛ sɛnea ɛbɛda ho nsɛm anaa ɛbɛyɛ den wɔ capillaries mu.
Wɔ nnipa a wɔyɛ heterozygous ma HbS ( a wɔde sickle cell yare) ba mu no, polymerisation ho haw ahorow no sua efisɛ allele a ɛteɛ no tumi yɛ haemoglobin no fã. Sɛ wɔmma wɔn oxygen (sɛ nhwɛso no, wɔ mmeae a ɛkorɔn) anaasɛ bere a nsu nni wɔn mu kɛse nkutoo a, na wɔn a wɔde sickle cell kɔ no nya yare no ho sɛnkyerɛnne .
Malaria a ɛma obi nya ɔyare mmoawa
[sesa]Sickle cell disease (SCD) yɛ ɔyare a ɛyɛ mmerɛ na ɛda so yɛ nkutoo a ɛda ho adi sɛ ɛyɛ ɔyare a ɛyɛ nsonsonoe a ɛda ho adi sɛ malaria yɛ ɔyare a ɛda so yɛ ɔyare a ɛyɛ mmerɛ. Sickle cell trait no ma ɔbarima anaa ɔbea a ɔwɔ no tumi nya nkwa a ɛyɛ mmerɛ wɔ nsɛm a ɛfa malaria ho, sen nnipa a wɔwɔ normal hemoglobin wɔ mpɔtam anaa nsɛm a malaria da so yɛ ɔyare a ɛyɛ mmerɛ.
Malaria ɔyare no yɛ ɔyare a ɛda so yɛ ɔyare a ɛyɛ mmerɛ na ɛda ho adi sɛ ɔyare a ɛyɛ nsonsonoe a ɛda ho adi sɛ abnormal hemoglobin gene no. Nkuto a wɔwɔ abnormal hemoglobin gene no (heterozygous) a wɔnya malaria no, wɔn ho bɔ mmɔden sɛ wɔbɛyɛ akwan a ɛyɛ den sen nnipa a wɔwɔ normal hemoglobin. SCD nkuto (homozygous) nso, wɔn ho bɔ mmɔden sɛ wɔbɛnya malaria, nanso sɛ wɔnya ɔyare no a, ɛyɛ den sɛ wɔbɛyɛ akwan a ɛyɛ den na ɛbɛyɛ ɔyare a ɛyɛ mmerɛ na ɛyɛ ɔhaw kɛse.
Sickle cell anemia ho nsɛm a ɛfa malaria ho yɛ ɔkwan a ɛda ho adi sɛ nsɛm a ɛda ho adi sɛ ɛyɛ bɔne a ɛda ho adi sɛ ɛyɛ abɔnefoɔ ne nsɛm a ɛda ho adi sɛ ɛyɛ bɔne no mu. Sɛnea ɛyɛ a, wɔn a wɔwɔ sickle cell homozygous (ɛyɛ abɔnefoɔ) no, wɔn nkwa da mu yɛ kakra, na eyi bɛyɛ sɛ ɛbɛma ɔkwan a ɛda ho adi sɛ ɛyɛ bɔne no nyɛ yiye. Nanso, wɔ mpɔtam a malaria yɛ bɔne kɛse no, sickle cell trait no da so yɛ hɔ efisɛ heterozygous (ɛyɛ abɔnefoɔ ne ɔkwan a ɛda ho adi sɛ ɛyɛ bɔne) no ma wɔn a wɔwɔ saa nsɛm yi mu no nya mfaso. Eyi yɛ ɔkwan a ɛda ho adi sɛ abatoɔ a ɛyɛ nokware wɔ ɔbra mu.
Sɛnea ɛyɛ a, ɔkwan a ɛda ho adi sɛ ɔyɛ bɔne a ɛyɛ abɔnefoɔ no yɛ mfaso ma wɔn a wɔwɔ sickle cell trait no, enti ɔyare no da so yɛ hɔ, na ɛyɛ nokware paa wɔ wɔn a wɔwɔ abatoɔ a ɛyɛ nokware wɔ mpɔtam a malaria yɛ bɔne kɛse, sɛnea ɛte wɔ Afrika, Mediterranean, India, ne Middle East. Ɛyɛ nokware sɛ malaria na ɛyɛ ɔyare a ɛda so yɛ hɔ wɔ abatoɔ a ɛyɛ nokware wɔ abatoɔ a ɛyɛ nokware wɔ abatoɔ a ɛyɛ nokware wɔ abatoɔ a ɛyɛ nokware wɔ abatoɔ a ɛyɛ nokware wɔ abatoɔ a ɛyɛ nokware wɔ abatoɔ a ɛyɛ nokware wɔ abatoɔ a ɛyɛ nokware wɔ abatoɔ a ɛyɛ nokware wɔ abatoɔ a ɛyɛ nokware. Nanso, wɔ mfe 20 mu no, wɔkae sɛ wɔatutu malaria fi southern Europe mu, gye wɔn a ɛyɛ nsɛm a ɛda ho adi sɛ ɛyɛ bɔne na ɛda so yɛ hɔ.
Genetics
[sesa]Hemoglobin yɛ ɔyɛn a ɛda ho adi sɛ ɔyare a ɛda so yɛ ɔkwan a ɛda ho adi sɛ aberewa ne ne nananom. Ɛyɛ ɔyɛn a ɛda ho adi sɛ ɔyɛn a ɛda ho adi sɛ aberewa ne ne nananom. Hemoglobin no yɛ ɔyɛn a ɛda ho adi sɛ ɔyɛn a ɛda ho adi sɛ aberewa ne ne nananom. Ɛyɛ ɔyɛn a ɛda ho adi sɛ ɔyɛn a ɛda ho adi sɛ aberewa ne ne nananom.
Sɛnea ɛda ho adi no, hemoglobin no wɔ protein subunits anan a wɔfrɛ no globins. Sɛnea ɛyɛ no, nkuto mmienu no yɛ alpha globins na nkuto mmienu no yɛ beta globins. Sɛnea ɛda ho adi no, hemoglobin no yɛ ɔyɛn a ɛda ho adi sɛ ɔyɛn a ɛda ho adi sɛ aberewa ne ne nananom.
Ná nnipa nyinaa wɔ hemoglobin a ɛyɛ pɛ, na ɛyɛ ɔkwan a ɛda ho adi sɛ aberewa.
- Hemoglobin F (HbF), a yɛ ɔyɛn a ɛda ho adi sɛ aberewa a ɛda ho adi sɛ ɔyɛn a ɛda ho adi sɛ aberewa ne ne nananom. Ɛyɛ hemoglobin a ɛyɛ aberewa mu, na ɛyɛ nkuto mmienu a ɛyɛ alpha (α-globin) ne nkuto mmienu a ɛyɛ gamma (γ-globin). Hemoglobin F no yɛ ɔkwan a ɛda ho adi sɛ aberewa no mu wɔ aberewa no mu na ɛda so yɛ ɔkwan a ɛda ho adi sɛ aberewa ne ne nananom.
Sɛnea aberewa no yɛ no, hemoglobin F no yɛ ɔkwan a ɛda ho adi sɛ aberewa no mu kɔsi nnawɔtwe nsia. Afei, hemoglobin A na ɛyɛ ɔkwan a ɛda ho adi sɛ aberewa ne ne nananom wɔ ɔman no mu. Hemoglobin A no bɛyɛ ɔkwan a ɛda ho adi sɛ aberewa ne ne nananom kɔsi ɔman no mu. - hemoglobin A, (Mpanyimfo hemoglobin, HbA) a ɛyɛ alpha abien ne beta (β-globin) nkɔnsɔnkɔnsɔn abien. Eyi ne nnipa hemoglobin tetramer a abu so sen biara, na ɛyɛ mogya mu nkwammoaa kɔkɔɔ hemoglobin nyinaa mu bɛboro 97% wɔ mpanyimfo a wɔte apɔw mu.
- hemoglobin A2, (HbA2) yɛ mpanyimfo hemoglobin a ɛto so abien na ɛyɛ alpha abien ne delta ( δ-globin ) nkɔnsɔnkɔnsɔn abien. Saa hemoglobin yi taa yɛ hemoglobin 1–3% wɔ mpanyimfo mu. [3]
β-globin yɛ ɔkwan a ɛda ho adi sɛ HBB gene a ɛwɔ ɔman no mu chromosome 11 so. Sɛ wɔyɛ nsɛm a ɛyɛ bɔne wɔ saa gene no mu a, ɛbɛma hemoglobin a ɛyɛ abɔnefoɔ a ɛda ho adi sɛ hemoglobins a ɛyɛ abɔnefoɔ. Nsɛm a ɛyɛ bɔne a ɛma sickle cell disease no yɛ nsɛm a ɛda ho adi sɛ hemoglobin a ɛyɛ abɔnefoɔ a wɔfrɛ no hemoglobin S (HbS), na eyi yɛ ɔkwan a ɛda ho adi sɛ HbA a ɛwɔ aberewa mu. Ɔman no mu genome no wɔ gene mmienu a ɛyɛ β-globin; wɔ nnipa a wɔwɔ sickle cell disease no, gene mmienu no nyinaa yɛ bɔne, na erythropoietic cells a ɛwɔ bone marrow no bɛyɛ HbS nko ara. Nnipa a wɔwɔ sickle cell trait no de, gene baako nko ara na ɛyɛ bɔne; erythropoiesis no bɛma mix a ɛyɛ HbA ne sickle HbS. Ɔbarima anaa ɔbea no bɛda ho adi sɛ ɔnni nsɛm kɛse biara fa sickle cell disease ho, nanso ɔwɔ gene no na ɔbɛtumi de ama ne mma.
Sickle cell ɔyare no yɛ ɔyare a ɛda so yɛ autosomal recessive a ɛyɛ ɔkwan a ɛda ho adi sɛ aberewa ne ne nananom. Ɛsɛ sɛ nkuto abien a wɔwɔ ɔyare no mu no yɛ nsɛm a ɛyɛ pɛ (homozygous condition) na ɔbarima anaa ɔbea bi bɛyɛ ɔyare a ɛyɛ autosomal recessive. Ɔyare a wɔda ho adi no, ɔno de, ɔwɔ aberewa a wɔnyɛ ɔyare na wɔn nyinaa wɔ nkuto abien; ɔkɔmfo baako na ɔwɔ nkuto a ɛyɛ abɔne na baako nso yɛ dea ɛyɛ pɛ (heterozygous condition) na wɔfrɛ wɔn sɛ genetic carriers; wɔn ho mfa nsɛm biara nni ho. Sɛ aberewa mmienu wɔ sickle cell trait no a, abɔfra biara a wɔbɛwo no bɛyɛ 25% ɔhaw sɛ ɔbɛnya sickle cell ɔyare; 25% ɔhaw sɛ ɔrennya sickle cell alleles biara, na 50% ɔhaw sɛ ɔbɛyɛ heterozygous condition (hwɛ diagram no).
Sickle cell gene mutation no wɔ haplotypes a ɛyɛ foforɔ na ɛda ho adi sɛ ɛyɛ ɔkwan a ɛda ho adi sɛ ɛyɛ bɔne a ɛbɛyɛɛ ɔkwan a ɛda ho adi sɛ ɛyɛ bɔne wɔ mpɔtam anaa ɔman a ɛyɛ foforɔ mu. Nsɛm a ɛyɛ bɔne no yɛ Cameroon, Senegal, Benin, Bantu, ne Saudi-Asian. Saa nsɛm yi yɛ nea ɛho hia na ɛyɛ nokware sɛ nsɛm a ɛda ho adi sɛ ɛyɛ bɔne no bi yɛ nsɛm a ɛda ho adi sɛ ɛyɛ abɔnefoɔ a wɔwɔ HbF (fetal hemoglobin) kɛse a ɛda ho adi sɛ Senegal ne Saudi-Asian variants, na wɔn a wɔwɔ saa nsɛm yi mu no bɛda ho adi sɛ wɔn yare no yɛ kakra.
Gene a ɛyɛ mfomso no yɛ ntotoho a ɛda so yɛ nucleotide baako a ɛyɛ β-globin gene mu, a ɛma glutamate yɛ abɛyɛ valine wɔ β-globin chain no ɔkwan 6 so. Hemoglobin S a wɔde mfomso yi yɛ HbS, na ɛnyɛ ɔmanpanyin a ɛyɛ HbA. Sɛ ɔyare mu nsɛm a ɛyɛ mmerɛwyɛ a ɛda so yɛ oxygen a ɛda hɔ no, ɛnnyɛ ɔkwan biara a ɛda so yɛ hemoglobin anaa ne tumi de bɔ oxygen kɔ ɔhonam mu. Nanso, deoxy form a ɛyɛ HbS no wɔ hydrophobic patch a ɛda hɔ a ɛma HbS molecules no bɔ mu yɛ nan ntama tenten a ɛnyɛ mmerɛ. Sɛ nsɛm a ɛyɛ mmerɛwyɛ a ɛda so yɛ oxygen a ɛda hɔ wɔ mogya mu, sɛnea yɛyɛ adwuma, yɛda ho nsɛm, ɔkwan anaa nsuo a ɛda hɔ no, HbS polymerization no bɔ fibrous precipitates wɔ mmerɛ red blood cell mu. Wɔ nnipa a wɔyɛ homozygous ma sickle cell mutation no, sɛ long-chain polymers a ɛyɛ HbS d
a hɔ a ɛma red blood cell no ho yɛ den fi ɔkwan a ɛyɛ nsonsonoe, na ɛma ne ho yɛ den na ɛyɛ mmerɛ na ɛyɛ mmerɛ sɛnea ɛbɛda ho nsɛm anaa ɛbɛyɛ den wɔ capillaries mu.
Wɔ nnipa a wɔyɛ heterozygous ma HbS ( a wɔde sickle cell yare) ba mu no, polymerisation ho haw ahorow no sua efisɛ allele a ɛteɛ no tumi yɛ haemoglobin no fã. Sɛ wɔmma wɔn oxygen (sɛ nhwɛso no, wɔ mmeae a ɛkorɔn) anaasɛ bere a nsu nni wɔn mu kɛse nkutoo a, na wɔn a wɔde sickle cell kɔ no nya yare no ho sɛnkyerɛnne .
Malaria a ɛma obi nya ɔyare mmoawa
[sesa]Sickle cell disease (SCD) yɛ ɔyare a ɛyɛ mmerɛ na ɛda so yɛ nkutoo a ɛda ho adi sɛ ɛyɛ ɔyare a ɛyɛ nsonsonoe a ɛda ho adi sɛ malaria yɛ ɔyare a ɛda so yɛ ɔyare a ɛyɛ mmerɛ. Sickle cell trait no ma ɔbarima anaa ɔbea a ɔwɔ no tumi nya nkwa a ɛyɛ mmerɛ wɔ nsɛm a ɛfa malaria ho, sen nnipa a wɔwɔ normal hemoglobin wɔ mpɔtam anaa nsɛm a malaria da so yɛ ɔyare a ɛyɛ mmerɛ.
Malaria ɔyare no yɛ ɔyare a ɛda so yɛ ɔyare a ɛyɛ mmerɛ na ɛda ho adi sɛ ɔyare a ɛyɛ nsonsonoe a ɛda ho adi sɛ abnormal hemoglobin gene no. Nkuto a wɔwɔ abnormal hemoglobin gene no (heterozygous) a wɔnya malaria no, wɔn ho bɔ mmɔden sɛ wɔbɛyɛ akwan a ɛyɛ den sen nnipa a wɔwɔ normal hemoglobin. SCD nkuto (homozygous) nso, wɔn ho bɔ mmɔden sɛ wɔbɛnya malaria, nanso sɛ wɔnya ɔyare no a, ɛyɛ den sɛ wɔbɛyɛ akwan a ɛyɛ den na ɛbɛyɛ ɔyare a ɛyɛ mmerɛ na ɛyɛ ɔhaw kɛse.
Sickle cell anemia ho nsɛm a ɛfa malaria ho yɛ ɔkwan a ɛda ho adi sɛ nsɛm a ɛda ho adi sɛ ɛyɛ bɔne a ɛda ho adi sɛ ɛyɛ abɔnefoɔ ne nsɛm a ɛda ho adi sɛ ɛyɛ bɔne no mu. Sɛnea ɛyɛ a, wɔn a wɔwɔ sickle cell homozygous (ɛyɛ abɔnefoɔ) no, wɔn nkwa da mu yɛ kakra, na eyi bɛyɛ sɛ ɛbɛma ɔkwan a ɛda ho adi sɛ ɛyɛ bɔne no nyɛ yiye. Nanso, wɔ mpɔtam a malaria yɛ bɔne kɛse no, sickle cell trait no da so yɛ hɔ efisɛ heterozygous (ɛyɛ abɔnefoɔ ne ɔkwan a ɛda ho adi sɛ ɛyɛ bɔne) no ma wɔn a wɔwɔ saa nsɛm yi mu no nya mfaso. Eyi yɛ ɔkwan a ɛda ho adi sɛ abatoɔ a ɛyɛ nokware wɔ ɔbra mu.
Sɛnea ɛyɛ a, ɔkwan a ɛda ho adi sɛ ɔyɛ bɔne a ɛyɛ abɔnefoɔ no yɛ mfaso ma wɔn a wɔwɔ sickle cell trait no, enti ɔyare no da so yɛ hɔ, na ɛyɛ nokware paa wɔ wɔn a wɔwɔ abatoɔ a ɛyɛ nokware wɔ mpɔtam a malaria yɛ bɔne kɛse, sɛnea ɛte wɔ Afrika, Mediterranean, India, ne Middle East. Ɛyɛ nokware sɛ malaria na ɛyɛ ɔyare a ɛda so yɛ hɔ wɔ abatoɔ a ɛyɛ nokware wɔ abatoɔ a ɛyɛ nokware wɔ abatoɔ a ɛyɛ nokware wɔ abatoɔ a ɛyɛ nokware wɔ abatoɔ a ɛyɛ nokware wɔ abatoɔ a ɛyɛ nokware wɔ abatoɔ a ɛyɛ nokware wɔ abatoɔ a ɛyɛ nokware wɔ abatoɔ a ɛyɛ nokware wɔ abatoɔ a ɛyɛ nokware. Nanso, wɔ mfe 20 mu no, wɔkae sɛ wɔatutu malaria fi southern Europe mu, gye wɔn a ɛyɛ nsɛm a ɛda ho adi sɛ ɛyɛ bɔne na ɛda so yɛ hɔ.
Malaria yɛ ɔyare a ɛda ho adi sɛ ɔyare no da so yɛ hɔ, na ɛwɔ ɔkwan a ɛyɛ duru a ɛda ho adi sɛ ɛyɛ bɔne. Malaria parasite no yɛ ɔyare a ɛda so yɛ hɔ wɔ abatoɔ a ɛyɛ nokware mu. Ɛwɔ mmerɛ abien a ɛyɛ mfaso ma wɔn a wɔwɔ sickle cell trait no, na ɛma wɔn ho yɛ den wɔ malaria ho. Ɛkan baako ne sɛ parasite no ntumi nyɛ nkɔso ne nsa so wɔ sickle cell carrier no abatoɔ mu; na abatoɔ a ɛyɛ nokware no nso da ho adi sɛ ɔyare no bɔne kɔfa no, na wɔbɛhunu sɛ abatoɔ no yɛ bɔne na wɔbɛsɛe no sɛ ɔkɔfa spleen no mu.