Falusi A G, Ogunmola G B, Esan G J
Afr J Med Med Sci. 1979 Sep-Dec;8(3-4):95-101.
Haemoglobin DIbadan (beta 87 threonine leads to lysine) was originally found in Ibadan, an area with a high incidence of sickle cell haemoglobin (HbS). Since haemoglobin D and S are indistinguishable by most common conventional methods, the geographical coincidence of the two haemoglobin poses a serious screening problem which was investigated in the propositus who is heterozygous for S and D, his wife who is heterozygous for A and S, and their six children. The combined techniques of haemoglobin solubility, sickling rate, shaking test and routine electrophoresis have yielded an unequivocal diagnosis of the haemoglobin types of the family both for identification and quantitative estimation of the percentage of haemoglobins in the heterozygotes. HbD was found to be slightly less soluble than HbA but otherwise normal blood from S+D individuals was found to contain 57-60% HbD suggesting an increased systhesis of HbD relative to S, whereas A+D heterozygote has 41% HbD suggesting a diminished synthesis of HbD relative to HbA. The physicochemical characteristic of HbD and the haematological data in simple heterozygotes are normal.
血红蛋白伊巴丹型(β87苏氨酸突变为赖氨酸)最初是在伊巴丹发现的,该地区镰状细胞血红蛋白(HbS)发病率很高。由于血红蛋白D和S通过大多数常见的传统方法无法区分,这两种血红蛋白在地理上的重合带来了严重的筛查问题,本文对一名S和D基因杂合的先证者、其A和S基因杂合的妻子以及他们的六个孩子进行了研究。血红蛋白溶解度、镰变率、振荡试验和常规电泳等综合技术,对该家庭的血红蛋白类型做出了明确诊断,既可以识别杂合子中血红蛋白的类型,也能对其百分比进行定量估计。结果发现,HbD的溶解度略低于HbA,但S + D个体的正常血液中发现含有57 - 60%的HbD,这表明相对于S,HbD的合成增加;而A + D杂合子中有41%的HbD,这表明相对于HbA,HbD的合成减少。HbD的理化特性以及单纯杂合子的血液学数据均正常。