Abstract
Hyperunstable hemoglobinopathy (HUH) [dominantly inherited β-thalassemia (β-thal)] is a relatively rare form of congenital hemolytic anemia in 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 mutation at 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.
Original language | English (US) |
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Pages (from-to) | 8-12 |
Number of pages | 5 |
Journal | Hemoglobin |
Volume | 38 |
Issue number | 1 |
DOIs | |
State | Published - 2014 |
Keywords
- Dominantly inherited β-thalassemia (β-thal)
- Heinz body hemolytic anemia
- Inclusion body
- Unstable hemoglobin (Hb)
ASJC Scopus subject areas
- Hematology
- Genetics(clinical)
- Clinical Biochemistry
- Biochemistry, medical