Hemoglobin. 1979;3(5):327-40.

Studies on a family with Hb J Calabria (alpha 2 beta 2 64 (E8) Gly replaced by Asp).

Marinucci M, Mavilio F, Fontanarosa PP, Tentori L, Brancati C.

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 beta-thalassemia 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 subclinical anemia and levels of the abnormal hemoglobin ranging from about 33 to 42%. The Hb J Calabria/beta-thalassemia 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.

PMID:: 500375; [PubMed - indexed for MEDLINE]

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