Background: Alpha (α)-thalassemia results from the absent or reduced synthesis of the α-globin subunit of hemoglobin. Mutational variants in the HBA1 and HBA2 genes, which code for α-globin, have been reported and cause varying degrees of disease severity. These variants are unique for every population. Local data on alpha-globin gene mutations in Filipino alpha-thalassemia is currently lacking.
Methods: This study aimed to identify the prevalence of common α-globin gene mutations in Filipinos highly suspected for α-thalassemia through evaluation of CBC results, red cell indices and upon ruling-out iron deficiency anemia. Sixty five [65] patients underwent DNA extraction and Alpha Globin StripAssay mutational analysis.
Results: The four gene deletion, (--SEA/--SEA), the three gene deletion, (-α 3.7/--FIL), (-α 3.7/--SEA), (-α 4.2/--SEA), the cis two gene, (--SEA/αα), (--FIL/αα), the trans two gene deletion, (-α3.7/-α3.7), the one gene deletion, (-α3.7/αα), and the (α2 cd 59/αα) were found in 1.54%, 21.54%, 56.92%, 1.54%, 6.15% and 1.54% of patients, respectively.
Conclusions: These results suggest that cis two gene deletions identified are prevalent in Filipinos tested. The high prevalence of cis two gene deletion of HBA1 and HBA2 in this study is important as these alleles may increase the risk of Hb H and Hb Bart’s hydrops fetalis cases in the population.
