Article
Coinheritance of a novel mutation on the HBA1 gene: c.187delG (p.W62fsX66) [codon 62 (-G) (α1)] with the α212 patchwork allele and Hb S [β6(A3)Glu→Val, GAG>GTG; HBB: c.20A>T].
Hemoglobin - 1 Jan 2013
Scheps Karen G, De Paula Silvia M, Bitsman Alicia R, Freigeiro Daniel H, Basack F Nora, Pennesi Sandra P, Varela Viviana
Abstract excerpt
We describe a novel frameshift mutation on the HBA1 gene (c.187delG), causative of α-thalassemia (α-thal) in a Black Cuban family with multiple sequence variants in the HBA genes and the Hb S [β6(A3)Glu→Val, GAG>GTG; HBB: c.20A>T] mutation. The deletion of the first base of codon 62 resulted in a...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.