Globin chain synthesis in Hb J Baltimore-beta (+)-thalassemia.

Abstract

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.

• Authors: S K Ballas, J Atwater, C Theriault, H C Kim, M Propst
• Journal: American journal of clinical pathology (Am J Clin Pathol) Vol. 75 Issue 6 Pg. 843-6 (Jun 1981) ISSN: 0002-9173 [Print] England
• PMID: 6167160 (Publication Type: Case Reports, Journal Article, Research Support, Non-U.S. Gov't)

Chemical References

• Hemoglobins, Abnormal
• Hemoglobin J
• Globins
• Hemoglobin A
• Fetal Hemoglobin

Topics

• Adult
• Female
• Fetal Hemoglobin (analysis)
• Globins (biosynthesis, genetics)
• Hematocrit
• Hemoglobin A (analysis)
• Hemoglobin J (biosynthesis, genetics)
• Hemoglobins, Abnormal (biosynthesis)
• Humans
• Thalassemia (blood, genetics)