beta-Thalassemia intermedia homozygous for normal hemoglobin A2 beta-thalassemia. Study in four families

Four homozygotes for beta-thalassemia with normal hemoglobins A2 and F were studied. The absence or scarcity of transfusion requirement and comparatively low hemoglobin F content were the most important findings. Both parents of 3 patients showed the findings of beta-thalassemia with normal hemoglobins A2 and F. Biosynthetic studies in 2 patients and their both parents showed moderate or mild beta-chain deficiency. The possible reason for this comparatively mild course of a beta-thalassemia syndrome lies in a mild deficit in beta-chain production.