Identification of four common alpha-thalassemia gene deletions among a group with hemoglobinopathies in Setif population, Algeria

Houcher B., Ozturk A., Begag S., Houcher Z., Akar N.

PTERIDINES, vol.24, no.3-4, pp.251-255, 2013 (SCI-Expanded) identifier identifier

  • Publication Type: Article / Article
  • Volume: 24 Issue: 3-4
  • Publication Date: 2013
  • Doi Number: 10.1515/pterid-2013-0034
  • Journal Name: PTERIDINES
  • Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Page Numbers: pp.251-255
  • Keywords: alpha-thalassemia, Algeria, frequency, mutation, Setif, MOLECULAR-SPECTRUM, OXIDATIVE STRESS, BETA-THALASSEMIA, H DISEASE, HAPLOTYPES, ANEMIA
  • Ankara University Affiliated: Yes

Abstract

alpha-Thalassemia (alpha-thal) is one of the most common genetic disorders in the world. It is characterized by the absence or reduced expression of a-globin genes. This study was carried out to evaluate the allelic frequency of alpha-thal defects in a patient for the first time in Setif (Algeria). One hundred and two patients with hemoglobinopathies from Setif region, Algeria, presenting thalassemia were included in this study. Genomic DNA isolation was carried out according to standard methods. For identifying the alpha-thal genotype, investigation of alpha-globin gene deletions (-alpha 3.7, -alpha 4.2, -(MED) and -alpha 20.5) was performed by using multiplex-polymerase chain reaction (PCR). Among the three deletions found, the most mutations were the -alpha 3.7 (10.78%), followed by the -(MED) (5.88%) and -alpha 20.5 (0.98%), whereas the -alpha 4.2 deletion was not observed (0.0%). The allele frequency is 0.054 (11/204) for the 3.7 deletion, 0.029 (6/204) for the MED and 0.005 (1/204) for the 20.5. Molecular heterogeneity of mutations is typical of a-thal in Algeria. Our findings will be valuable and essential for the molecular diagnosis and prevention strategies of hemoglobinopathy gene mutations in the Algerian population.