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

نویسندگان
Nasirabadi, Sh ID 1
Afrasiabi, AR ID 2
Imanifard, J ID 3
Mehrpoor,, Sh ID 4
Karimi, M ID 5
Dehghani, SJ ID 6
Amiri Dashtarzhen, A ID 7
Dehbozorgian, J ID 8
Morshedi, N ID 9

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

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

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

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

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

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

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

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

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

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چکیده

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

کلیدواژه‌ها
Keywords: Hb J-Iran, α-thalassemia, Hemoglobin variants, Electrophoresis, High performance liquid chromatography