Sickle cell syndromes. III. Silent-carrier alpha-thalassemia in combination with hemoglobin S and hemoglobin C.
Silent carrier alpha-thalassemia was identified in two individuals, one with sickle-cell trait and the other hemoglobin (Hb) C trait. Both are parents of a child with characteristic hematologic features of the Hb SC-alpha thalassemia syndrome, including microcytosis and an unbalanced pattern of globin synthesis. In contrast to the typical findings that accompany heterozygous Hb S or Hb C with concomitant alpha-thalassemia trait, neither of the parents had microcytosis nor a percent of the abnormal hemoglobin in their erythrocytes that was below the normal range. In both, however, globin synthesis of peripheral blood reticulocytes was unbalanced, consistent with mild alpha-thalassemia. These findings suggest that the alpha-thalassemia silent carrier may be hematologically indistinguishable from the nonthalassemic individual, even when hemoglobin S or C are present.
D000755:Anemia, Sickle Cell / Q000150:complications*; D002648:Child; D005260:Female; D006445:Hemoglobin C Disease / Q000097:blood / Q000150:complications* / Q000235:genetics; D006579:Heterozygote; D006801:Humans; D008297:Male; D012805:Sickle Cell Trait / Q000097:blood / Q000150:complications* / Q000235:genetics; D013789:Thalassemia / Q000097:blood / Q000150:complications* / Q000235:genetics