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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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
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author Dehghani, S J
Amiri Dashtarzhen, A
Nasirabadi, Sh
Dehbozorgian, J
Afrasiabi, A R
Morshedi, N
Imanifard, J
Mehrpoor, Sh
Gerdabi, J
Karimi, M
author_facet Dehghani, S J
Amiri Dashtarzhen, A
Nasirabadi, Sh
Dehbozorgian, J
Afrasiabi, A R
Morshedi, N
Imanifard, J
Mehrpoor, Sh
Gerdabi, J
Karimi, M
author_sort Dehghani, S J
collection PubMed
description 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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spelling pubmed-33719982012-06-21 Combined α-thalassemia and Hemoglobin J-Iran (β77 His → Asp). A Family Study in southern Iran Dehghani, S J Amiri Dashtarzhen, A Nasirabadi, Sh Dehbozorgian, J Afrasiabi, A R Morshedi, N Imanifard, J Mehrpoor, Sh Gerdabi, J Karimi, M Iran Red Crescent Med J Case Report 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. Kowsar 2011-08 2011-08-01 /pmc/articles/PMC3371998/ /pubmed/22737531 Text en Copyright © 2011, Kowsar M.P. Co. http://creativecommons.org/licenses/by/2.5/ This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
spellingShingle Case Report
Dehghani, S J
Amiri Dashtarzhen, A
Nasirabadi, Sh
Dehbozorgian, J
Afrasiabi, A R
Morshedi, N
Imanifard, J
Mehrpoor, Sh
Gerdabi, J
Karimi, M
Combined α-thalassemia and Hemoglobin J-Iran (β77 His → Asp). A Family Study in southern Iran
title Combined α-thalassemia and Hemoglobin J-Iran (β77 His → Asp). A Family Study in southern Iran
title_full Combined α-thalassemia and Hemoglobin J-Iran (β77 His → Asp). A Family Study in southern Iran
title_fullStr Combined α-thalassemia and Hemoglobin J-Iran (β77 His → Asp). A Family Study in southern Iran
title_full_unstemmed Combined α-thalassemia and Hemoglobin J-Iran (β77 His → Asp). A Family Study in southern Iran
title_short Combined α-thalassemia and Hemoglobin J-Iran (β77 His → Asp). A Family Study in southern Iran
title_sort combined α-thalassemia and hemoglobin j-iran (β77 his → asp). a family study in southern iran
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3371998/
https://www.ncbi.nlm.nih.gov/pubmed/22737531
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