Studies on a Family with HB J Calabria (α₂ β₂ 64 (E8 GLY → ASP)

Abstract

Hb J Calabria is a fast moving hemoglobin variant which was found in an Italian family by Vecchio et al. (1), and in a French family by Blouquit et al.who studied its functional properties (2). The original family described by Vecchio et al. in which both Hb J Calabria and β-thal-assemia were present has been reexamined and is the subject of the present study. Hematological and clinical features of the carriers are described. The heterozygous carriers of Hb J Calabria showed only mild variable sub-clinical anemia and levels of the abnormal hemoglobin ranging from about 33 to 42%. The Hb J Calabria/β-thal-assemia double heterozygote showed a moderate chronic hemolytic anemia with alterations of the RBC indices and morphology in addition to splenomegaly. The relationship between structural abnormality, functional properties and clinical expression of Hb J Calabria is discussed.