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 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.
Hematology Research Center, Shiraz University of Medical Science, Shiraz, Iran.
S J
SJ
Dehghani
A
A
Amiri Dashtarzhen
Sh
Sh
Nasirabadi
J
J
Dehbozorgian
A R
AR
Afrasiabi
N
N
Morshedi
J
J
Imanifard
Sh
Sh
Mehrpoor
J
J
Gerdabi
M
M
Karimi