Globin chain synthesis in beta-thalassemia with normal hemoglobins A2 and F.
Biosynthetic studies were performed in a patient with beta-thalassemia intermedia heterozygous for both beta-thalassemia with normal hemoglobins A2 and F and beta-thalassemia with increased Hb A2, in his both parents, one sister and one brother. In propositus the alpha/beta 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 alpha/beta ratio was 1.07, possibly due to combination of alpha- and beta-thalassemia. In his sister who had increased Hb A2, alpha/beta ratio was 1.57. In his brother with normal Hb A2 (2.5%) ratio was 0.6 indicating the presence of an alpha-thalassemia gene. Similar beta-thalassemic syndromes found in other countries are discussed.
D000293:Adolescent; D000328:Adult; D005260:Female; D005319:Fetal Hemoglobin / Q000378:metabolism*; D005914:Globins / Q000096:biosynthesis*; D006441:Hemoglobin A / Q000378:metabolism*; D006579:Heterozygote; D006801:Humans; D008297:Male; D008875:Middle Aged; D010375:Pedigree; D013789:Thalassemia / Q000235:genetics / Q000378:metabolism*
D005914:Globins; D006441:Hemoglobin A; D005319:Fetal Hemoglobin