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.
D000328:Adult; D000755:Anemia, Sickle Cell / Q000235:genetics*; D002648:Child; D002675:Child, Preschool; D005260:Female; D006801:Humans; D008297:Male; D008875:Middle Aged; D012383:Romania; D012805:Sickle Cell Trait / Q000175:diagnosis / Q000235:genetics*