镰状细胞特征(AS)个体对恶性疟原虫感染的耐药性是否与高频率接触珠蛋白Hp2-1有关?

A. Elagib, Hiba Mirgani
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引用次数: 1

摘要

镰状细胞性贫血是一种由人血红蛋白-链单点突变引起的血红蛋白病变。在喀土穆教学医院儿科进行了一项基于医院的病例对照研究,以调查接触珠蛋白表型在镰状细胞病患者中的作用。对127名镰状病患者和34名健康对照者进行Hb表型筛查。88例纯合子镰状细胞贫血(HbSS)患者中,77.3%为Hp -1型,22.7%为Hp -2型,均无Hp -2型。在39例镰状细胞特征(HbAS)个体中,41%的个体具有Hp1-1表型,59%的个体具有Hp21表型,没有人具有hp2 -2表型。在34名健康对照(HbAA)中,44%的人患有Hp 1-1表型,38%的人患有Hp 2-1表型,18%的人患有Hp2-2表型。三组间触珠蛋白表型分布差异极显著(P = 0.0001)。镰状细胞性状(AS) Hp2-1的频率较高。镰状细胞病个体(SS) Hp1-1的频率较高。综上所述,镰状细胞纯合子(SS)个体的疟疾感染可能与Hp1-1的高频率有关,而镰状细胞性状(AS)对疟疾感染的保护可能与2-1型接触珠蛋白的高频率有关。
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Is resistance to P. falciparum infection in sickle cell trait (AS) individuals is related to presence of high frequencies of haptoglobin Hp2-1?
Sickle cell anemia is a haemoglobinpathy due to a single point mutation in the -chain of human haemoglobin. A hospital based case control study was done on the paediatric section in Khartoum Teaching hospital to investigate the role of haptoglobin phenotypes among sickle cell disease patients. A total number of 127 sickle disease patients and 34 healthy controls were screened for Hb phenotypes. Out of 88 homozygous sickle cell anaemia patients (HbSS), 77.3% patients had the Hp 1-1 phenotype, 22.7% had the Hp 2-1 phenotype, and none of them had Hp 2-2 type. Out of the 39 sickle cell trait (HbAS) individuals, 41% individuals had Hp1-1 phenotype, 59% had Hp21 phenotype and none of them had the Hp 2-2 phenotypes. Out of the 34 healthy controls (HbAA), 44% had Hp 1-1 phenotype, 38% had Hp 2-1 phenotype and 18% had Hp2-2 phenotype. There was a highly significant difference in the distribution of haptoglobin phenotypes among the three groups (P = 0.0001). The sickle cell trait (AS) had high frequency of Hp2-1. The sickle cell disease individuals (SS) had higher frequencies of Hp1-1. In conclusion, Malaria infection among the sickle cell homozygous (SS) individuals may be related to the high frequency of Hp1-1 and the protection of sickle cell trait (AS) against malaria infection may be due to the high frequency of haptoglobin phenotype 2-1.
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