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Title: -thalassemia in the American Negro. Author: Schwartz E, Atwater J. Journal: J Clin Invest; 1972 Feb; 51(2):412-8. PubMed ID: 5061833. Abstract: 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.[Abstract] [Full Text] [Related] [New Search]