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).
D000328:Adult; D044383:Black People; D002845:Chromatography; D005260:Female; D005914:Globins / Q000096:biosynthesis*; D006451:Hemoglobin, Sickle / Q000235:genetics; D006455:Hemoglobins, Abnormal / Q000235:genetics*; D006579:Heterozygote; D006801:Humans; D007930:Leucine / Q000378:metabolism; D013789:Thalassemia / Q000097:blood*; D013997:Time Factors; D014481:United States; D001741:Black or African American
D006451:Hemoglobin, Sickle; D006455:Hemoglobins, Abnormal; D005914:Globins; D007930:Leucine