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纯合子镰状细胞病中胎儿血红蛋白水平与βS单倍型的关系。

Relationship of foetal haemoglobin levels and beta s haplotypes in homozygous sickle cell disease.

作者信息

Falusi A G, Kulozik A E

机构信息

Postgraduate Institute for Medical Research and Training, College of Medicine, University College Hospital, Ibadan, Nigeria.

出版信息

Eur J Haematol. 1990 Jul;45(1):1-4. doi: 10.1111/j.1600-0609.1990.tb00405.x.

DOI:10.1111/j.1600-0609.1990.tb00405.x
PMID:1696209
Abstract

The foetal haemoglobin (HbF) levels and the haplotypes of beta s chromosomes in sickle cell anaemia patients in Nigeria were evaluated. The mean HbF level was 5.9 +/- 3.8% with a range of 0.9-16.7%. 80% of the patients had HbF values below 8% and 94% had HbF levels below 10%. No significant difference in haematological parameters was seen between those with less than 2% HbF and those with greater than 8% HbF. The presence (+) or absence (-) of eight restriction endonuclease enzyme sites within the beta s globin gene cluster (haplotype) on chromosome 11 were mapped. The common haplotype (- - - - + + - +) in 97% of the chromosomes examined closely correlates with the low levels of foetal haemoglobin generally observed in sickle cell patients in the same population.

摘要

对尼日利亚镰状细胞贫血患者的胎儿血红蛋白(HbF)水平和βs染色体单倍型进行了评估。平均HbF水平为5.9±3.8%,范围为0.9 - 16.7%。80%的患者HbF值低于8%,94%的患者HbF水平低于10%。HbF低于2%的患者与高于8%的患者之间在血液学参数上未见显著差异。对11号染色体上βs珠蛋白基因簇(单倍型)内8个限制性内切酶位点的存在(+)或缺失(-)进行了定位。在所检测的97%的染色体中,常见单倍型(- - - - + + - +)与同一人群中镰状细胞患者普遍观察到的胎儿血红蛋白低水平密切相关。

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引用本文的文献

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Frequency of beta S globin gene haplotypes among sickle cell patients in Nigeria.尼日利亚镰状细胞病患者中βS珠蛋白基因单倍型的频率
J Int Med Res. 2021 Jun;49(6):3000605211019918. doi: 10.1177/03000605211019918.