Hemoglobin D in a Family in Tehran and Evaluation the Ethnic Origin of hemoglobinopathy

Introduction and Objectives:Hemoglobinopathies are among the most prevalent genetic disorders worldwide, and occur asa result of mutations in the gene involved in synthesizing hemoglobin chains. Hemoglobin Dis one of these disorders, which is caused nucleotide changes B-globin gene and subsequentsynthesis of glutamine instead of glutamic acid at position 121 on B-globin chain. This studywas carried out to evaluate Hb D distribution in Iranian population.Materials and Methods:This descriptive laboratory study was done on peripheral blood samples from 21 relatedindividuals in Tehran. Test on sample from a patient showed a high level of Hb A2, whenmeasured by cationic exchange HPLC. Other methods such as alkaline & acid electrophoresisand Capillary electrophoresis were performed on the same sample. Furthermore, these testswere performed on the others members of family of patient. Results were confirmed bymolecular studies (PCR-RFLP).Discussion (findings) and conclusions:The patient randomly referred to the laboratory and was discovered her hemoglobinopathy.Except of 6 person, others have shown heterozygous D hemoglobinopathy. Subsequentstudies showed that the family has migrated from Khuzestan province to Tehran city duringthe war and the gene is inherited from the father s family. According to the studies that arecarried out about the relative frequency hemoglobin D in some areas of Iran such asKhuzestan province, Migration can lead to Distribution of disorders such ashemoglobinopathies in other regions.

کلیدواژه ها:

Capillary Electrophoresis ، Hemoglobinopathy ، HPLC ، PCR-RFLP