Effect of alpha globin gene numbers on pathophysiology of iron deficiency anemia:  a preliminary report from India

Sanjay Kumar Pandey

Volume : IV, Issue : X, October - 2015

Effect of alpha globin gene numbers on pathophysiology of iron deficiency anemia: a preliminary report from India

Sanjay Kumar Pandey

Abstract :

Background– Iron deficiency is the commonest cause of microcytic hypochromic anaemia in India. Iron deficiency anemia (IDA), β thalassemia trait and anemia of chronic disease are common causes of microcytosis. Coexistence of α+ and α0 thalassaemia with abnormal HbS and E may modify the level of haemoglobin in blood.there is a paucity of studies of alpha genes deletions & also it is an alteration with the coexistent IDA. It is preliminary report on the coexistence of alpha gene numbers and iron deficiency anemia in India Methodology– A total 416 IDA patients were evaluating. 10 ml. venus blood was collected from IDA patients. Hemogram, iron profiling and DNA analysis were performed in all subjects. Identification of α–deletions (3.7 kb, 4.2kb, SEA, SA) and triplication (Anti3.7kb) was performed by Gap–PCR. Result– Alpha thalassemia genotyping was performed in all subjects where 5.04% (21) subjects were presenting α–thal. genotype in hetrozugouse conditions. Twenty patients were presenting α –3.7kb genotype while one patient had α– 4.2kb deletions in heterozygous status Patients with α –deletions had lower haemoglobin, mean corpuscular volume (MCV), mean corpuscular haemoglobin (MCH) levels, and mean corpuscular haemoglobin concentration (MCHC) than patients without α –deletions. Conclusion – Our data show that alpha chain deletion has worsen phenotype in IDA and lowering red cell indices and iron profiles.