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 examination of the patient showed a microcytic, hypochromic anemia, and hemoglobin electrophoresis on cellulose acetate media at alkaline ph depicted a profile of fast moving hemoglobins consisting of hb j iran, hb bart and hemoglobin h. molecular analysis of alpha and beta chains of hemoglobin revealed a genotype of -(ά)20.5/- ά3.7+ ββ 77 his -> asp. to our knowledge, this is the first report of such patient with details of hematological and molecular analysis from south west iran. this case report may provide a new insight into hemoglobin electrophoresis interpretation and hemoglobin disorders especially for health sector and genetic counsellors.