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

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 t...

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Detalles Bibliográficos
Autores principales: Dehghani, S J, Amiri Dashtarzhen, A, Nasirabadi, Sh, Dehbozorgian, J, Afrasiabi, A R, Morshedi, N, Imanifard, J, Mehrpoor, Sh, Gerdabi, J, Karimi, M
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Kowsar 2011
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3371998/
https://www.ncbi.nlm.nih.gov/pubmed/22737531
Descripción
Sumario: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.

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