α地中海贫血与血红蛋白J-伊朗型（β77位组氨酸突变为天冬氨酸）合并症：伊朗南部的一项家系研究

Dehghani S J, Amiri Dashtarzhen A, Nasirabadi Sh, Dehbozorgian J, Afrasiabi A R, Morshedi N, Imanifard J, Mehrpoor Sh, Gerdabi J, Karimi M

Hematology Research Center, Shiraz University of Medical Science, Shiraz, Iran.

Iran Red Crescent Med J. 2011 Aug;13(8):586-9. Epub 2011 Aug 1.

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.

我们报告了一名23岁男性及其三名家庭成员，经电泳、高效液相色谱链分离和测序确诊为Hb J-伊朗型。两名家庭成员也被确诊为α地中海贫血。β77处的替代导致βJ-伊朗亚基带更高的负电荷，增强了其对正常带正电荷的α亚基的静电吸引力。因此，杂合子红细胞中形成的Hb J-伊朗型比Hb A更多。在α地中海贫血中，更具吸引力的βJ-伊朗亚基在与缺陷α亚基形成聚集体时胜过βA亚基，所以形成了更多的Hb J-伊朗型。