Globin chain synthesis in HbD (Punjab)-beta-thalassemia.
A 23-yr-old man of Greek-Italian ancestry with mild anemia was found to be heterozygous for HbD (Punjab) beta121 glu leads to gin and beta-thalassemia. HbA was not detected upon electrophoresis of the subject's hemolysate, and no synthesis of betaA globin was demonstrated after incubation of peripheral blood or bone marrow with 3H-leucine. The thalassemia gene was thus of the betao variety. The betaD/alpha synthesis ratios were almost equally unbalanced in the blood and bone marrow: 0.53 and 0.61, respectively. The mother of the propositus had beta-thalassemia trait. In peripheral blood the betaA/alpha synthesis ratio was 0.38. The mutant betaD gene thus appeared potentially capable of directing the synthesis of globin chains as efficiently as a normal betaA gene. The mildness of the HbD-betao-thalassemia syndrome appeared to be due to the maintenance of a relatively high total beta/alpha synthesis ratio in the presence of a physiologically neutral structural mutation.
D000328:Adult; D000595:Amino Acid Sequence; D001853:Bone Marrow / Q000378:metabolism; D001854:Bone Marrow Cells; D004592:Electrophoresis, Starch Gel; D004912:Erythrocytes / Q000378:metabolism; D005914:Globins / Q000096:biosynthesis*; D006455:Hemoglobins, Abnormal / Q000378:metabolism*; D006579:Heterozygote; D006801:Humans; D008297:Male; D013789:Thalassemia / Q000378:metabolism*
D006455:Hemoglobins, Abnormal; D005914:Globins