发现血红蛋白府城（Hofu）或α2β2 [126（H4）缬氨酸突变为谷氨酸]与血红蛋白S同时存在。

Hemoglobin Hofu or alpha 2 beta 2 [126 (H4) Va1 leads to Glu] found in combination with hemoglobin S.

作者信息

Brittenham G, Lozoff B, Harris J W, Nayudu N V, Gravely M, Wilson J B, Lam H, Huisman T H

出版信息

Hemoglobin. 1978;2(6):541-9. doi: 10.3109/03630267809005355.

Abstract

Hb Hofu, alpha 2 beta 2 [126 (H4) Va1 leads to Glu], was found in 10 members of 2 apparently unrelated Valmiki families in central India. None showed evidence of hemolysis and hemoglobin levels were normal in most. In two individuals, Hb Hofu occurred in combination with Hg S, but neither had clinical manifestations of sickle cell disease. In samples containing Hb Hofu, the isopropanol precipitation test was positive. Quantitation of the hemoglobin fractions by DEAE-cellulose chromatography showed that Hb Hofu constituted a mean of 23--25% of the total whether in combination with Hb A or Hb S.

摘要

在印度中部两个明显无亲缘关系的瓦尔米基家族的10名成员中发现了胡府血红蛋白（Hb Hofu），其α2β2 [126（H4）缬氨酸突变为谷氨酸]。大多数成员均无溶血迹象且血红蛋白水平正常。在两名个体中，胡府血红蛋白与血红蛋白S（Hb S）同时存在，但两人均无镰状细胞病的临床表现。在含有胡府血红蛋白的样本中，异丙醇沉淀试验呈阳性。通过DEAE - 纤维素色谱法对血红蛋白组分进行定量分析表明，无论与血红蛋白A（Hb A）还是血红蛋白S结合，胡府血红蛋白平均占总量的23% - 25%。