Blood, 1953, Vol. 8, No. 5, pp. 434-443.
© 1953 American Society of Hematology, Inc.
Two Cases of Sickle Cell Disease Presumably Due to the
Combination of the Genes for Thalassemia
and Sickle Cell Hemoglobin
JAMES V. NEEL PH.D., M.D.1,
HARVEY A. ITANO PH.D., M.D.1, and
JOHN S. LAWRENCE M.D.1
1 Heredity Clinic, the University of Michigan, Ann Arbor, Mich.; the Gates and
Crellin Laboratories of Chemistry, California Institute of Technology, Pasadena, Calif.;
and the Department of Medicine, University of California Medical Center, Los Angeles,
Calif.
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.
Submitted on November 8, 1952
Accepted on January 6, 1953
