Globin Chain Synthesis in β-Thalassemia with Normal Hemoglobins A₂ and F

Abstract

Biosynthetic studies were performed in a patient with β-thalassemia intermedia heterozygous for both β-thalassemia with normal hemoglobins A₂ and F and β-thalassemia with increased Hb A₂, in his both parents, one sister and one brother. In propositus the α/β ratio was 1.68. In his mother with normal Hb A₂' this value was 1.21. In contrast, in his father who had increased Hb A₂, the α/β ratio was 1.07, possibly due to combination of α-and β-thalassemia. In his sister who had increased Hb A₂ α/βa ratio was 1.57. In his brother with normal Hb A₂ (2.5%) ratio was 0.6 indieating the presence of an α-thalassemia gene. Similar β-thalasse-mic syndromes found in other countries are discussed.