Blood, 1973, Vol. 42, No. 5, pp. 763-769.
© 1973 American Society of Hematology, Inc.
Genetic Implications of the Interaction of
Two Types of Beta-Thalassemia Genes
in a Patient With Thalassemia Major
Giuseppe Russo 1,
Florindo Mollica 1,
Lorenzo Pavone 1,
Salvatore Musumeci 1, and
Corrado Baglioni 1
1 Pediatric Clinic, University of Catania, Italy, and the Department of Biology of the
Massachusetts Institute of Technology, Cambridge, Mass. 02139
A patient with thalassemia major is described in which two types of thalassemia
genes are present, one that reduces 
-chain
synthesis and the other that suppresses it
completely. The identification of these two
types of -thalassemia genes is based on
the presence or absence of HbA in other
members of the same family who are also
HbC carriers. The genetic implications of
the interaction of these two thalassemia
genes are discussed in view of recent
theories on the nature of the molecular
defect characteristic of each type of
thalassemia.
Submitted on January 22, 1973
Revised on April 20, 1973
Accepted on April 23, 1973
