Globin chain synthesis in Hb J Baltimore-beta (+)-thalassemia.
An American black family in whom hemoglobin J Baltimore and beta (+)-thalassemia genes coexisted is described. The proposita is a 23-year-old woman with a hemoglobin (Hb) level of 11.5 g/dl, microcytic, hypochromic indices, increased values of Hbs A2 and F, and alpha/non-alpha synthetic ratio of 1.52. Hbs A and J Baltimore (beta 16 Gly---Asp) constituted 12% and 81.3%, respectively, of her total hemoglobin. Her sister had a very similar peripheral blood picture, but Hbs A and J Baltimore constituted 6.8% and 85.5%, respectively, of her total hemoglobin, and the alpha/non-alpha synthetic ratio was 1.39. The mother had beta(+)-thalassemia trait only, a moderate degree of anemia, and greater synthetic imbalance (alpha/non-alpha raio of 1.73). These findings suggest that the presence of the Hb J Baltimore gene ameliorates the effects of a coexistent beta-thalassemia gene.
D000328:Adult; D005260:Female; D005319:Fetal Hemoglobin / Q000032:analysis; D005914:Globins / Q000096:biosynthesis* / Q000235:genetics; D006400:Hematocrit; D006441:Hemoglobin A / Q000032:analysis; D006448:Hemoglobin J / Q000096:biosynthesis* / Q000235:genetics; D006455:Hemoglobins, Abnormal / Q000096:biosynthesis*; D006801:Humans; D013789:Thalassemia / Q000097:blood* / Q000235:genetics
D006455:Hemoglobins, Abnormal; D006448:Hemoglobin J; D005914:Globins; D006441:Hemoglobin A; D005319:Fetal Hemoglobin