Balkan Journal of Medical Genetics

RARE AND NEW MUTATIONS OF Β-GLOBIN IN AZARI POPULATION OF IRAN, A CONSIDERABLE DIVERSITY
Abbasali F.H.1, Mahmoud K.Sh.2,3, Hengameh N.3, Mina D.H.3, Setare D.3, Hale D. M3, Sima D.M.2,3*
*Corresponding Author: MD.PhD Sima Mansoori Derakhshan, Department of Medical Genetics, Faculty of Medicine, Tabriz University of Medical Sciences, Tabriz, Iran, & Ebne Sina Medical Genetics Laboratory, Specialized and Sub-specialized Outpatient Clinics, Tabriz
page: 51

MATERIALS/PATIENTS AND METHODS

Study Subjects EDTA tubes containing venous blood samples were collected from 5190 presumptive hemoglobinopathy carriers who were at the premarital or PND stages from January 2011 to November 2019. The carriers had been referred for confirmation by the molecular analysis under a national prenatal screening program (19). The selection criteria in this program were based on the hematological indices (MCV<80 fl, MCH<27 pg). If both in the couple are microcytic, hemoglobin A2 concentrations are then checked by the hematology laboratories. As a part of the 7-year nationwide screening program for thalassemia at our medical genetic center, molecular analysis was performed for 5190 potentially at-risk individuals, mostly among the Azeri community. In this population, 4749 cases belonged to the couples who were in the pre-marital stage, and the remaining 441 cases were related to fetal samples (samples obtained from the amniotic fluid or chorionic villus). This nationwide program has been implemented by Iran’s Ministry of Health and Medical Education to reduce and control the incidence of thalassemia. Ethical approval was obtained to report the results from our institutional review board. Molecular Analysis Screening and full genotyping of thalassemia were performed on all individuals. Based on the hematologic and hemoglobin electrophoresis results, they were tested for the β-thalassemia (1389 cases) or both β and α-thalassemia (3801 cases) by molecular analysis methods. Those diagnosed with a heterozygote or homozygote β-thalassemia mutation, 2113 cases, were included in this study. First, the ARMS-PCR technique was used to screen the ten well-known common thalassemia mutations in this region including the IVSII-I(G>A), IVSI-110(G>A), codon- 8 frameshift FSC8(-AA), FSC8/9(+G), IVSI-I(G>A), IVSI-6(T>C), IVSI-5(G>C), CD39(C>T), CD44(-C), and (-30) (T>A). In individuals who were negative in terms of these mutations, Sanger sequencing analysis (Sanger, 1997) was performed using an ABI automated sequencer analyzer (ABI-3730XL Capillary, Applied Biosystem, USA), according to the manufacturer’s instructions. Gap-PCR and multiplex ligation-dependent probe amplification (MLPA) (SALSA MLPA P102 HBB kit) techniques were also used for detection of the large possible deletions. Gap- PCR method was used for evaluation of 619 bp-deletion, HPFH1, HPFH2, HPFH3, Sicilian (-13,337bp) deletion, and Hb Lepore, as well as Spanish, Asian-Indian, and Turkish δβ-thalassemia deletion. Mutations with frequencies equal or less than 2% were considered as rare.

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