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

• Authors: M Marinucci, F Mavilio, P P Fontanarosa, L Tentori, C Brancati
• Journal: Hemoglobin (Hemoglobin) Vol. 3 Issue 5 Pg. 327-40 ( 1979) ISSN: 0363-0269 [Print] England
• PMID: 500375 (Publication Type: Journal Article)

Chemical References

• Hemoglobins, Abnormal
• Aspartic Acid
• Hemoglobin J
• Glycine

Topics

• Aged
• Aspartic Acid
• Child
• Female
• Glycine
• Hemoglobin J (analysis, genetics)
• Hemoglobins, Abnormal (genetics)
• Humans
• Italy
• Kinetics
• Male
• Pedigree
• Protein Conformation