Clinical and laboratory repercussions in patient with hemoglobin SD-Punjab disease: a case report

Abstract

ABSTRACT We report the first case of hemoglobin SD-Punjab disease, a rare form of sickle-cell disease, in the state of Bahia. Detection was possible by a test for the identification of hemoglobin (Hb) variants with the high-resolution liquid chromatography technique. By means of the molecular study of chromosomal polymorphism with beta-globin S gene, the Bantu haplotype was observed. According to studies, there is strong association between the prevalence of Bantu haplotype and reduced levels of fetal Hb and Hb D-Punjab as a stimulating factor for S polymerization, what contributes to the hematological disorders of the disease and organ damage, as gallstones and aseptic necrosis of the femoral head.

Keywords

• sickle-cell anemia
• hemoglobinopathies
• haplotypes
• blood protein electrophoresis