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Hb Grand Junction (HBB: c.348_349delinsG; p.His117IlefsX42): a new hyperunstable hemoglobin variant.
Hemoglobin
; 38(1): 8-12, 2014.
Artigo
em Inglês
| MEDLINE
| ID: mdl-24432801
RESUMO
Hyperunstable hemoglobinopathy (HUH) [dominantly inherited ß-thalassemia (ß-thal)] is a relatively rare form of congenital hemolytic anemia in which mutations occur in the genes encoding for α and ß 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 mutation at codons 115/116 of the ß-globin gene. Both patients also have a 3.7 kb deletion on one α gene, leading to a decreased imbalance between α and ß chain formation, and subsequently a milder phenotype than that seen in other hyperunstable Hb variants.