"A Rare Interactions Between Heterozygous --SEA Deletion and Hb Ube-2 [α68 (E17) Asn →Asp]; First Reported Case from Malaysia"

Abstract

To report a rare interaction between known pathogenic alpha variant (--SEA deletion) with another rare alpha variant, Hb Ube-2 [α68 (E17) Asn →Asp] among our population. This finding may support the current classification of the rare variant as benign or likely benign variant. To date, limited data available in the literature describing this abnormal hemoglobin variant in compound heterozygous state with another pathogenic variant. Identification of the patient confirmed that the interaction of these rare Hb variants with α0-thalassemia does not lead to the Hb H disease.