Combined α-thalassemia and Hemoglobin J-Iran (β77 His → Asp). A Family Study in southern Iran
نویسندگان
چکیده
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.
منابع مشابه
Heterozygote Hemoglobin J Iran in Combination with Hemoglobin H Disease
This is a report concerning a concurrent case of hemoglobin J Iran (Hb J Iran) and Hemoglobin H (Hb H) disease in an Iranian woman. The patient was coincidentally found during the course of routine pre-marital genetic counselling for her son. The diagnosis of heterozygote Hb J Iran for her son, ultimately led to the diagnosis of concurrent Hb J Iran and Hb H disease. The hematological examinati...
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