Studies on a family with Hb J Calabria (alpha 2 beta 2 64 (E8) Gly replaced by Asp).
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.
D000368:Aged; D001224:Aspartic Acid; D002648:Child; D005260:Female; D005998:Glycine; D006448:Hemoglobin J / Q000032:analysis / Q000235:genetics*; D006455:Hemoglobins, Abnormal / Q000235:genetics*; D006801:Humans; D007558:Italy; D007700:Kinetics; D008297:Male; D010375:Pedigree; D011487:Protein Conformation
D006455:Hemoglobins, Abnormal; D001224:Aspartic Acid; D006448:Hemoglobin J; D005998:Glycine