Identification of seven novel variants in the β-globin gene in transfusion-dependent and normal patients

Abstract excerpt

Introduction: Abnormality in HBB results in an inherited recessive blood disorder, which can be caused by variants at the transcriptional or translational level affecting the stability and the production of the HBB chain. The severity of the disease relies on the variant's characteristics. This study aimed to identify the common -globin HBB variants in the population of the Eastern Province, which has the highest...

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