Sickle-cell disease. Two cases in a Romanian family

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.