α-globin gene 20.5kb deletion and triplication mutations among Palestinian patients with microcytic hypochromic anemia

Lamiaa Sobhi Saqer, FathElrahman Mahdi Hassan, Fadel Akram Sharif

Abstract


Background: α0-thalassemias results from double gene deletions of the α-genes on the same chromosome as in (-α)20.5. In contrast to deletion, α-globin genes triplication (αααanti3.7) is generated by homologous recombination during the process of crossover. This study was conducted to detect (-α)20.5 and ααα anti3.7 mutations in patients with microcytic hypochromic anemia in Gaza Strip-Palestine.

Methods: 200 subjects with microcytic hypochromic anemia with an age range of 18 to 48 years, were recruited from hematological departments of the main hospitals in Gaza Strip. The study subjects were those who underwent premarital β-thalassemia carrier screening, and their results were negative. Iron deficiency was excluded through measurement of serum iron and total iron binding capacity (TIBC). Complete blood count was done automatically. Molecular detection of (-α)20.5and αααanti3.7 mutations were performed by Multiplex-PCR.

Results: Sixty-six (33%) of the study participants proved to have α-thalassemia. The frequency of (-α)20.5and αααanti3.7 mutations were: 13.25% and 5.5%, respectively. Four genotypes were detected: -α20.5/αα accounted for 26% (52/200), αααanti3.7/αα for 2.5% (5/200), αααanti3.7/αααanti3.7 for 4% (8/200) and αααanti3.7/-α20.5 for 0.5% (1/200). The comparison of hematological parameters between -α20.5/αα and αααanti3.7 mutation carriers (αααanti3.7/αα and αααanti3.7/αααanti3.7) revealed, though not statistically significant, higher levels in carriers of αααanti3.7 mutation. The   -α20.5/αααanti3.7 genotype was observed in one case.

Conclusion: The rate of -α20.5and αααanti3.7 in the Palestinian population is high as compared to neighboring countries. Conducting further molecular testing to detect additional α-thalassemia mutations is needed in order to obtain a clearer picture of the genetic nature of this disease.

Keywords: α-thalassemia; -α20.5deletion; αααanti3.7 triplication; Multiplex-PCR; Gaza Strip


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DOI: http://dx.doi.org/10.62940/als.v12i2.2161

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