Hb Nile[A1] and Hb Nile[A2]: Novel Identical [α77(EF6)Pro→Ser] Variants Found in Either the α1- or α2-Globin Genes

Abstract

We describe a novel hemoglobin (Hb) variant, caused by a CCC > TCC transition at codon 77 on the α gene. The mutation was found in two unrelated patients, in one patient on the α1 gene and in the other patient on the α2 gene. Both are anemic patients of African origin. Due to the neutral Pro→Ser substitution, Hb Nile could not be separated from Hb A with common short-run screening methods for high performance liquid chromatography (HPLC) and capillary electrophoresis, but was evidently present after prolonged cation exchange HPLC or separation by isoelectric focusing (IEF). Reversed phase HPLC separation of the globin chains revealed the normal and abnormal α chains with an expression of about 20% for Hb Nile[A1], indicative of normal expression and stability of the mutant protein.

Keywords:

• Abnormal hemoglobin (Hb)
• α Chain
• Globin
• Hemoglobinopathy
• α-Thalassemia (α-thal)