heterozygotes

ABSTRACT. Hb Hasharon has an electrophoretic mobility similar to that of Hb S in cellulose acetate and a mobility between Hb S and C at acid pH. In high-performance liquid chromatography, Hb Hasharon shows a distinct chromatographic profile and retention time. The origin of this variant is a mutation in codon 47 (GAC → CAC) of the α2-globin gene, resulting in the replacement of asparagine by histidine during the transla-tion process. Ten blood samples from individuals suspected of being Hb Hasharon carriers were analyzed. In addition to classic laboratory tests and high-performance liquid chromatography, molecular analysis by poly-merase chain reaction with restriction fragment length polymorphism designed in the laboratory was performed to confirm this mutation. The study of these cases showed that a combination of classical and molecu-lar methodologies is necessary in the diagnosis of hemoglobinopathies for a correct hemoglobin mutant identification. The accurate identifica-ti l l ():- (2006) FUNPEC-RP www.funpecrp.com.br A.R. Chinelato-Fernandes et al. 2 Genetics and Molecular Research 5 (1): 1-6 (2006) www.funpecrp.com.b