Hemoglobinopathy Approach Diagnosis and Treatment Policy

Abstract

Hemoglobinopathies are the most common single gene disorders worldwide with a considerable frequency in certain area particularly Mediterranean and Middle Eastern countries. Hemoglobinopathies include structural variants of hemoglobin (Hb S, Hb C, HbE,...) and thalassaemias which are inherited defects in the globin chains synthesis. The present study was conducted to determine the prevalence of hemoglobinopathies in western Iranian patients. A total of 344 patients (151 males and 193 females) with abnormal CBC and/or hemoglobin electrophoresis were enrolled in the present study. Cellulose acetate gel electrophoresis was performed for all patients and abnormal bands were identified by citrate agar gel electrophoresis and PCR based methods. Iron deficiency anemia (IDA) was present in 156 (45.3%) individuals. Thirty four (9.8%) patients had both iron deficiency anemia and α-thalassemia trait trait, 41(11.9%) patients were with both iron deficiency anemia and minor β-thalassemia. There were 31(9%) patients with α-thalassemia trait and 5 (2.2%) patients with Hb H disease. Fifty six (16.2%) patients had minor β-thalassemia. Also, there were 10 (2.9%) individuals homozygous for hemoglobin D-Punjab and one patient with hemoglobin G (0.3%). There was one sample with hemoglobin C. Further, we found 3 patients (0.9%) with sickle cell trait and more 3 patients (0.8%) with S/ β +-thalassemia. Our results indicated that the most frequent cause of hypochromic and/or microcytic anemia in our population was IDA and the minor β-thalassemia was the second cause that needs to more attention in screening programs.