Globin synthesis studies in a person heterozygous for alpha-thalassemia-2, Hb S and Hb G Philadelphia.

Abstract

A 21-year-old American black female with mild anemia was found to be triply heterozygous for alpha-thalassemia-2, hemoglobin S and hemoglobin G Philadelphia. Hemoglobin A comprised 39% of her total hemoglobin. The alpha-thalassemia gene was expressed by an alpha/non-alpha synthesis of ratio of 0.79 +/- 0.09 and was equally unbalanced in the peripheral blood and the bone marrow. Globin synthesis studies indicated that the percentage of Hb G and Hb S in the peripheral blood is about 32% and 31% respectively. These values are due to the coexistent alpha-thalassemia-2 gene with the following most likely genotype: --alpha G/alpha alpha, beta A/beta S (or --alpha/alpha G alpha, beta A beta S).

• Authors: S K Ballas, B K Walker, J Atwater
• Journal: Clinica chimica acta; international journal of clinical chemistry (Clin Chim Acta) Vol. 100 Issue 1 Pg. 1-6 (Jan 01 1980) ISSN: 0009-8981 [Print] Netherlands
• PMID: 7351073 (Publication Type: Case Reports, Journal Article, Research Support, U.S. Gov't, P.H.S.)

Chemical References

• Hemoglobin, Sickle
• Hemoglobins, Abnormal
• Globins
• Leucine

Topics

• Adult
• Black People
• Chromatography
• Female
• Globins (biosynthesis)
• Hemoglobin, Sickle (genetics)
• Hemoglobins, Abnormal (genetics)
• Heterozygote
• Humans
• Leucine (metabolism)
• Thalassemia (blood)
• Time Factors
• United States