-thalassemia in the American Negro.
In Italian and Chinese patients with the alpha-thalassemia syndromes the production of alpha-chain of normal hemoglobin is decreased relative to that of beta-chain in reticulocytes. In this study the relative rates of alpha- and beta-chain synthesis were determined in members of three Negro families with alpha-thalassemia. Two of the families had members with hemoglobin H disease and alpha-thalassemia trait, while the mother of several children with alpha-thalassemia trait in the third family was doubly heterozygous for alpha-thalassemia and an alpha-chain mutant. The alpha/beta ratios of globin synthesis in the patients with hemoglobin H disease and alpha-thalassemia trait indicated less severe biochemical defects in the peripheral blood than those previously determined in Italian and Chinese patients. In the third family, there was a heterogeneity of expression of the gene for alpha-thalassemia, including patients with normal red cell indices and synthesis ratios. These findings differ from those previously described in patients with alpha-thalassemia from other racial groups. Hydrops fetalis due to homozygous alpha-thalassemia may not occur in the Negro because of the relatively mild thalassemic defect.
D000293:Adolescent; D000328:Adult; D001741:Black or African American; D000368:Aged; D001797:Blood Protein Electrophoresis; D002648:Child; D002675:Child, Preschool; D004487:Edema / Q000235:genetics; D005260:Female; D005315:Fetal Diseases / Q000235:genetics; D005914:Globins / Q000096:biosynthesis; D006455:Hemoglobins, Abnormal / Q000096:biosynthesis*; D006801:Humans; D008297:Male; D008875:Middle Aged; D010375:Pedigree; D011247:Pregnancy; D013789:Thalassemia / Q000235:genetics* / Q000378:metabolism; D014481:United States
D006455:Hemoglobins, Abnormal; D005914:Globins