Molecular and Hematological Characterization of Alpha Thalassemia In Nineveh Province
Pages
23-30Keywords:
Abstract
Background: Iraq reports high occurrence of Alpha (α) thalassemia. However, limited data exist on the epidemiology of causative α-globin mutations in Nineveh.
Aims: To analyze the α- thalassemia alleles mutational spectrum in Nineveh and to establish the mean corpuscular volume (MCV) and mean corpuscular hemoglobin (MCH) cut-off value for α0- thalassemia trait.
Methods: Retrospective study was conducted at Ibn-Al-Atheer and Ibn-Sina Teaching Hospitals between the years 2021 to 2025. Records of a total of 320 persons attending the Premarital Screening Unit were examined. 159 persons had normal α- globin gene (normal control group), and 161 had mutated α-globin gene (of which 7 persons have α0 mutations while the other 154 were α+ mutations). All individuals underwent complete blood count, serum ferritin, hemoglobin variant, polymerase chain reaction study. Data were analyzed using IBM-SPSS 26.
Results: Detection of 15 α-gene mutations were confirmed, with -α3.7 was the most frequent (42.8%). The mean of MCV (70.81±3.14 fL) was statistically lower within α0-trait than normal α-gene. The optimum cut-off of MCH level in claiming and predicting α0-thalaessemia trait is 25 pg, for MCV the best cut-off level is 74 fL.
Conclusion: The study defines prevalent mutant α-gene variants in Nineveh, with -alpha3.7 predominant. MCV and MCH are useful data to select individuals for molecular tests to determine the α-thalassemia carrier status. Both the MCV & MCH cut-off point most probably will decrease the number of the persons requirements for further α-thalassemia DNA study. Our findings will provide baseline for genetic counselling, public health planning and premarital screening programs in the region.
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