Combined a-thalassemia and hemoglobin j-Iran (p77 his -► asp)‎. a family study in southern Iran

Abstract EN

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 out-competes βA subunits in forming assemblies with deficient α subunits, so even more Hb J-Iran was formed.