Mild beta-thalassemia in black subjects.
In two American black families with beta-thalassemia, globin chain synthesis was investigated in vitro. The resultant alpha/beta and alpha/non-alpha labelling ratios were expressed in terms of both specific activity and total counts. In one family, two brothers with clinical presentations compatible with thalassemia intermedia had apparently each inherited two different beta-thalassemia alleles. Thus, they are compound heterozygotes. Their alpha/beta (or alpha/non-alpha) ratios were in the same range as those found in Caucasian subjects with severe Cooley's anemia. In addition, alpha/beta ratios in heterozygotes in this study were the same as those found in Caucasian heterozygotes. A difference in degree of chain imbalance measured by our present method cannot explain the relative lack of severe clinical manifestations of beta-thalassemia in blacks. Further family studies are indicated to discover other genetic or environmental factors modifying the effects of beta-thalassemia.
D000293:Adolescent; D044383:Black People; D002675:Child, Preschool; D005260:Female; D005319:Fetal Hemoglobin / Q000032:analysis; D005914:Globins / Q000097:blood; D006454:Hemoglobins / Q000032:analysis; D006579:Heterozygote; D006801:Humans; D007223:Infant; D007501:Iron / Q000097:blood; D008297:Male; D008875:Middle Aged; D010375:Pedigree; D011247:Pregnancy; D013789:Thalassemia / Q000097:blood / Q000235:genetics* / Q000378:metabolism; D014481:United States; D001741:Black or African American
D006454:Hemoglobins; D005914:Globins; D005319:Fetal Hemoglobin; D007501:Iron