Sickle Cell Syndromes. III. Silent-Carrier α-Thalassemia in Combination with Hemoglobin S and Hemoglobin C

Abstract

Summary: Silent carrier α-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-α 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 α-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 α-thalassemia. These findings suggest that the α-thalassemia silent carrier may be hematologically indistinguishable from the nonthalassemic individual, even when hemoglobin S or C are present.

Speculation: These findings provide additional evidence that the genetic pattern of α-thalassemia in American blacks is probably similar to that previously characterized in Far-Eastern populations, in spite of the clear differences in the clinical and hematologic expression of these disorders in the two populations.

Log in or create a free account to read this content

Gain free access to this article, as well as selected content from this journal and more on nature.com

Access through your institution

or

Sign in or create an account

Continue with Google

Continue with ORCiD