TITLE:
ß-Globin Gene Cluster Haplotypes and Clinical Severity in Sickle Cell Anemia Patients in Southern Brazil
AUTHORS:
Maria A. L. da Silva, João R. Friedrisch, Christina M. Bittar, Meide Urnau, Jóice Merzoni, Vanessa S. Valim, Bruna Amorin, Annelise Pezzi, José Artur B. Chies, Lúcia M. da Rocha Silla
KEYWORDS:
Sickle Cell Anemia, ß-Globin, Fetal Hemoglobin and Clinical Severity
JOURNAL NAME:
Open Journal of Blood Diseases,
Vol.4 No.2,
June
24,
2014
ABSTRACT: 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 SCA
patients whose clinical course is mild from the morbidity and mortality
associated with HSCT. Haplotypes have been correlated with the severity of
clinical manifestations in SCA patients, and fetal hemoglobin(HbF)and socioeconomic status(SeS)have also been described as negative factors. We studied these factors and
their impact on clinical manifestations in a population of Southern Brazilian
patients attending the Center for Sickle Cell Anemia at Hospital de Clínicas de
Porto Alegre/RS, Brazil. Clinical severity was defined as two or more
veno-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. Most
patients in our sample(62.7%)belonged
to lower SeS groups, precluding meaningful statistical analysis of SeS impact
on clinical severity. There was no correlation between haplotypes or HbF level
and SCA clinical severity. Gene polymorphisms and environmental issues have to
be taken into consideration.