Two Cases of Sickle Cell Disease Presumably Due to the Combination of the Genes for Thalassemia and Sickle Cell Hemoglobin

A family of Greek derivation is described in which 2 out of 6 children examined exhibited a sickle cell type of anemia. The father of these children was found to have thalassemia minor and the mother the sickle cell trait. It is presumed that the anemia in the two children was due to simultaneous heterozygosity for the sickling and thalassemia genes. Biochemical studies with reference to the occurrence and amounts of normal, sickle cell, and fetal hemoglobin were carried out on the parents and the 6 children. The theoretic interpretation of the biochemical findings is discussed.