Combined α-thalassemia and Hemoglobin J-Iran (β77 His → Asp). A Family Study in southern Iran.

Abstract

We report a 23-year-old man and three members of his family with Hb J-Iran confirmed by electrophoresis, chain separation by high performance liquid chromatography and sequencing. Alpha thalassemia was also confirmed in two family members. The substitution at β77 led to a higher negative charge of the βJ-Iran subunit, which enhanced its electrostatic attraction for the normal positively-charged α subunit. Therefore, more Hb J-Iran than Hb A forms in the red blood cells of heterozygotes. In α-thalassemia, the more attractive βJ-Iran subunit outcompetes βA subunits in forming assemblies with deficient α subunits, so even more Hb J-Iran was formed.

• Authors: S J Dehghani, A Amiri Dashtarzhen, Sh Nasirabadi, J Dehbozorgian, A R Afrasiabi, N Morshedi, J Imanifard, Sh Mehrpoor, J Gerdabi, M Karimi
• Journal: Iranian Red Crescent medical journal (Iran Red Crescent Med J) Vol. 13 Issue 8 Pg. 586-9 (Aug 2011) ISSN: 2074-1812 [Electronic] Estonia
• PMID: 22737531 (Publication Type: Case Reports)