Oral Presentation Indian Ocean Rim Laboratory Haematology Congress 2019

High rate of Hb S  in genotypes frequency of beta chain globin among people of southwest of Iran admitted to Nor genetic laboratory (#12)

Mohammad Ali Jalali Far 1 , Najmaldin Saki 2 , Mina Ebrahimi 2 , Javad Mohammadi Asl 2 , Mehri Ehtiati 3
  1. Blood Transfusion Research Centre, High Institute for Research and Education in Transfusion Medicine, Tehran, Iran
  2. Thalassemia & Hemoglobinopathy Research Center, Health Research Institute.Ahvaz Jundishapur University of Medical Sciences, Ahvaz, Iran
  3. Shahid Beheshti University of Medical sciences, Tehran, Iran

Beta thalassemia is general concern of countries that located on thalassemic belt including Iran. About 4 % of Iranian population  In 2003, approximately 25% of the national blood products and 6 million vials of desferal were used for thalassemic patients. Thalassemia was one of the important genetical disorder of general health in different regions of Iran including North and South of our country. Khouzestan province is one of prevalent region of thalassemia and hemoglobinopathy that located in southwest of Iran. Study of beta chain globin is essential core in preventive program and helps us in predict the thalassemia status in Prenatal Diagnosis(PND).

Our study was cross sectional descriptive and included all couples and their fetus or children that referred to Nor genetic laboratory. The data was collected from our population according to special form that including demographic parameters in non random simple sampling. Peripheral venous blood was collected into an EDTA-anticoagulated tube and Complete Blood Count(CBC) were determined using Sysmex automated blood cell analyzer (XN-1000TM). For determination of Hb A, A2 and F Hb electrophoresis was used. The DNA extraction by commercial kit and all samples were screened for the mutations in beta globin gene. The data was analyzed by SPSS software.

The number of our population was 990 individuals and included 45.4 % male, 43.5 % female, 10.8 % and the mean of MCV, MCH, Hb A2 and HbF was 68.9 FL, 22.2, 5.2 % and 1.97 % respectively. The frequent genotypes was Codon 36-37, HbS , IVS II-1,IVS-110, IVS I-1 with 13.8 %,13.7% , 12.1 %, 7.5 % and 6.3 % respectively.

Our findings showed the different results from previous study and from other studies in our country. The high rate of Hb S is due to the ethnicity of our population and should be taken in consideration because the high rate of thalassemia among Iranian people.