摘要：

Hematopoietic stem cell transplantation(HSCT)has emerged as a curative strategy for sickle cell anemia(SCA);it is necessary to find markers of SCA clinical severity to spare those SCApatients whose clinical course is mild from the morbidity and mortalityassociated with HSCT. Haplotypes have been correlated with the severity ofclinical manifestations in SCA patients, and fetal hemoglobin(HbF)and socioeconomic status(SeS)have also been described as negative factors. We studied these factors andtheir impact on clinical manifestations in a population of Southern Brazilianpatients attending the Center for Sickle Cell Anemia at Hospital de Clínicas dePorto Alegre/RS, Brazil. Clinical severity was defined as two or moreveno-occlusive episodes per year. The βS haplotypes were determined by PCR in 75 SCA patients. Among the 150 βS chromosomes analyzed, 99(66%)were identified as Bantu(Ban),41(27%)asBenin(Ben),and 10(7%)as other haplotypes. Mostpatients in our sample(62.7%)belongedto lower SeS groups, precluding meaningful statistical analysis of SeS impacton clinical severity. There was no correlation between haplotypes or HbF leveland SCA clinical severity. Gene polymorphisms and environmental issues have tobe taken into consideration.

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