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 -(α)20.5/-α3.7+ β β77 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.