Hb Grand Junction (HBB: c.348_349delinsG; p.His117IlefsX42): A New Hyperunstable Hemoglobin Variant
2014
AbstractHyperunstable
hemoglobinopathy(HUH) [dominantly inherited β-
thalassemia(β-thal)] is a relatively rare form of
congenital hemolytic anemiain which mutations occur in the genes encoding for α and β chains, or both chains of the hemoglobin (Hb) molecule. We describe two Hispanic adolescents with a new unstable Hb variant (HBB: c.348_349delinsG; p.His117IlefsX42), resulting from a
frameshift mutationat codons 115/116 of the β-globin gene. Both patients also have a 3.7 kb deletion on one α gene, leading to a decreased imbalance between α and β chain formation, and subsequently a milder phenotype than that seen in other hyperunstable Hb variants.
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