title: beta-Thalassemia intermedia homozygous for normal hemoglobin A2 beta-thalassemia. Study in four families.
abstract: 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.
mesh_terms: D000328:Adult; D002648:Child; D005260:Female; D005319:Fetal Hemoglobin / Q000032:analysis*; D005914:Globins / Q000096:biosynthesis / Q000235:genetics*; D006441:Hemoglobin A / Q000032:analysis*; D006443:Hemoglobin A2 / Q000032:analysis*; D006720:Homozygote; D006801:Humans; D008297:Male; D010375:Pedigree; D013789:Thalassemia / Q000097:blood / Q000235:genetics*
chemical_list: D005914:Globins; D006441:Hemoglobin A; D006443:Hemoglobin A2; D005319:Fetal Hemoglobin