血红蛋白SC病中的β-珠蛋白基因单倍型

Beta-globin gene haplotype in Hb SC disease.

作者信息

Steinberg M H, Nagel R L, Lawrence C, Swaminathan V, Lu Z H, Plonczynski M, Harrell A

机构信息

VA Medical Center, Jackson, MS 39216, USA.

出版信息

Am J Hematol. 1996 Jul;52(3):189-91. doi: 10.1002/(SICI)1096-8652(199607)52:3<189::AID-AJH9>3.0.CO;2-P.

DOI:10.1002/(SICI)1096-8652(199607)52:3<189::AID-AJH9>3.0.CO;2-P

PMID:8756085

Abstract

We asked the question, is the haplotype found with the sickle hemoglobin gene associated with different hematological characteristics in patients who were combined heterozygotes for sickle hemoglobin and hemoglobin C (Hb SC disease)? In 73 adults with Hb SC disease, a Benin haplotype chromosome was present in 56%, and Bantu (or Central African Republic; CAR), Senegal, and atypical haplotype chromosomes were found in 25%, 6%, and 12%, respectively. No significant difference were found in hematological characteristics or fetal hemoglobin levels of patients with Benin/C, CAR/C, Senegal/C, and atypical/C haplotypes. There were 71% C I, 18% C II, and 11% other beta(c) haplotypes. Fetal hemoglobin levels are lower in Hb SC disease than in sickle-cell anemia. Perhaps because haplotype has no discernible effect on fetal hemoglobin level in Hb SC disease, it does not modulate its hematological features.

摘要

我们提出了一个问题

在镰状血红蛋白和血红蛋白C的复合杂合子患者（Hb SC病）中，与镰状血红蛋白基因相关的单倍型是否与不同的血液学特征有关？在73名患有Hb SC病的成年人中，56%存在贝宁单倍型染色体，25%、6%和12%的患者分别发现了班图（或中非共和国；CAR）、塞内加尔和非典型单倍型染色体。贝宁/C、CAR/C、塞内加尔/C和非典型/C单倍型患者的血液学特征或胎儿血红蛋白水平未发现显著差异。β(c)单倍型中C I型占71%，C II型占18%，其他类型占11%。Hb SC病患者的胎儿血红蛋白水平低于镰状细胞贫血患者。也许由于单倍型对Hb SC病患者的胎儿血红蛋白水平没有明显影响，所以它不会调节其血液学特征。