α-Thalassemia in the American Negro

• Published in: The Journal of clinical investigation 1972-02, Vol.51 (2), p.412-418
• Main Authors: Schwartz, Elias, Atwater, Jean
• Format: Article
• Language: English
• ISSN: 0021-9738
• DOI: 10.1172/JCI106827

In Italian and Chinese patients with the α-thalassemia syndromes the production of α-chain of normal hemoglobin is decreased relative to that of β-chain in reticulocytes. In this study the relative rates of α- and β-chain synthesis were determined in members of three Negro families with α-thalassemia. Two of the families had members with hemoglobin H disease and α-thalassemia trait, while the mother of several children with α-thalassemia trait in the third family was doubly heterozygous for α-thalassemia and an α-chain mutant. The α/β ratios of globin synthesis in the patients with hemoglobin H disease and α-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 α-thalassemia, including patients with normal red cell indices and synthesis ratios. These findings differ from those previously described in patients with α-thalassemia from other racial groups. Hydrops fetalis due to homozygous α-thalassemia may not occur in the Negro because of the relatively mild thalassemic defect.