Utilization of different methodologies for the characterization of Hb Hasharon heterozygotes.
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 alpha2-globin gene, resulting in the replacement of asparagine by histidine during the translation 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 polymerase 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 molecular methodologies is necessary in the diagnosis of hemoglobinopathies for a correct hemoglobin mutant identification. The accurate identification of hemoglobin variants is essential for genetic counseling and choice of therapy.
Chinelato-Fernandes
A R
AR
Laboratório de Hemoglobinas e Genética das Doenças Hematológicas, Instituto de Biociências, Letras e Ciências Exatas, IBILCE, São José do Rio Preto, SP, Brazil. ar.chinelato@uol.com.br
Mendiburu
C F
CF
Bonini-Domingos
C R
CR
D000293:Adolescent; D000328:Adult; D002648:Child; D002675:Child, Preschool; D002851:Chromatography, High Pressure Liquid; D004252:DNA Mutational Analysis; D004588:Electrophoresis, Cellulose Acetate; D005260:Female; D006580:Genetic Carrier Screening / Q000379:methods*; D006455:Hemoglobins, Abnormal / Q000235:genetics*; D006579:Heterozygote; D006801:Humans; D007223:Infant; D008297:Male
D006455:Hemoglobins, Abnormal; C029985:hemoglobin Sealy