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

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).