Elucidating the spectrum of alpha thalassemia mutations in iran

Unlike β-thalassemia trait and iron deficiency, no simple biochemical test can detect α-thalassemia.

There is a paucity of data on α and β - genotyping in Iran.

This study aimed to evaluate the effect of different types of beta-globin gene mutations, co-inheritance of alpha-globin gene mutations and/or Xmn1 SNP on disease phenotype in a large cohort of Iranian patients.

elucidating the spectrum of alpha thalassemia mutations in iran-4

Hematological indices including red blood cells (RBC), hemoglobin concentration (Hb), mean cell volume (MCV), mean cell hemoglobin (MCH), Mean corpuscular hemoglobin concentration (MCHC) and percentage of Hemoglobin (HBA and HBF) of seven-hundred and twenty two patients presenting ten different α-thal genotypes were considered. Moreover, MCV and MCH were lower in patients with two functional alpha globin genes in comparison to patients with one mutated alpha globin gene (P value Alpha thalassemia (α-thal) is one of the hemoglobinopathy that is characterized by a quantitative reduction of the α globin chains (1-2).This is an Open Access article distributed under the terms of the Creative Commons Attribution License, ( which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.Alpha thalassemia (α-thal) is relatively common worldwide.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. Bio Med Res Int 2013; 2013:1-10 Clarke GM, Higgins TN. There were 31(9%) patients with α-thalassemia trait and 5 (2.2%) patients with Hb H disease. Laboratory investigation of hemoglobinopathies and thalassemias: review and update. Complete absence of α globin genes (--/--) results in Hemoglobin Bart’s hydrops fetalis which is characterized by severe intrauterine anemia resulting in fetal hydrops and, in almost all cases, intrauterine death (8).α-thal trait diagnosis is based on microcytosis (MCV thalassaemia (11).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. Genetic epidemiology, hematological and clinical features of hemoglobinopathies in Iran. The key to successful detection and characterization of the hemoglobinopathies, particularly the thalassemias, is the initial hematological data.The clue for a thalassemia comes with a low mean corpuscular volume (MCV) or mean corpuscular hemoglobin (MCH).