Abstract
The hematologic features of α-thalassemia trait include microcytosis, morphologic erythrocyte abnormalities, and deficient α-chain synthesis. With coexistent Hb S or Hb C trait a lower than usual percentage of the abnormal Hb is also found. Study of a family with genes for Hbs S and C and α-thalassemia disclosed a previously unrecognized syndrome. A 9 year old black child with Hb SC disease had persistent microcytosis and hypochromia with normal serum iron and ferritin levels. The α/non-α chain synthesis ratio from his blood reticulocytes was 0.69, supporting a diagnosis of Hb SC with α-thalassemia trait. The mother has Hb S trait with 32.7% Hb S, MCV 81, and normal red cell morphology; the father has Hb C trait with 38.1% Hb C, MCV 82, with typical Hb C trait red cell morphology. α/non-α chain synthesis ratios were 0.75 for the mother and 0.76 for the father, suggesting that both have mild α-thalassemia trait. These findings demonstrate that “silent carrier” α-thalassemia is also silent with respect to the percentage of Hb S or Hb C in the heterozygote. These results suggest that the genetic pattern of α-thalassemia in blacks may be similar to that of Far Eastern populations in spite of the milder hematologic expression of α-thalassemia in blacks.
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
or
Author information
Authors and Affiliations
Rights and permissions
About this article
Cite this article
Honig, G., Mason, R., Tremalne, L. et al. 610 α-THALASSEMIA SILENT CARRIER WITH HEMOGLOBINS S AND C. Pediatr Res 12 (Suppl 4), 465 (1978). https://doi.org/10.1203/00006450-197804001-00615
Issue date:
DOI: https://doi.org/10.1203/00006450-197804001-00615
