Predescu C, Bratu V, Rădulescu E, Ferche G, Drăgulănescu M
Med Interne. 1977 Jan-Mar;15(1):67-71.
Hemoglobin S is rarely found in Caucasians, especially in its homozygous expression. The authors report two cases of homozygotes for Hb S diagnosed in a Romanian family. Ten subjects were investigated, belonging to three generations of the same family, and the following results were obtained: two cases of homozygotes for Hb S; five cases of heterozygotes; three normal subjects. One of the two subjects homozygous for Hb S, a girl aged six, had a severe clinical evolution, typical for homozygous drepanocytosis. The second case, a sister of the first aged two, had a less severe evolution, without splenomegaly and thrombotic accidents. The heterozygote subjects showed no clinical symptoms. The two cases of homozygous Hb S reported are the first cases of sickle-cell disease described in Romania.
血红蛋白S在高加索人中很少见，尤其是纯合子表达形式。作者报告了在一个罗马尼亚家庭中诊断出的两例血红蛋白S纯合子病例。对属于同一家族三代的10名受试者进行了调查，结果如下：两例血红蛋白S纯合子；五例杂合子；三名正常受试者。两名血红蛋白S纯合子受试者中的一名，是一名六岁女孩，临床病情严重，具有典型的纯合子镰状细胞贫血症状。第二例是第一例的两岁妹妹，病情较轻，无脾肿大和血栓形成事件。杂合子受试者未表现出临床症状。所报告的这两例血红蛋白S纯合子病例是罗马尼亚描述的首例镰状细胞病病例。
