Hb grand junction (HBB: C.348-349delinsG; P.His117IlefsX42): A new hyperunstable hemoglobin variant

Michael W. Kent; Jennifer L. Oliveira; James D. Hoyer; Kenneth C. Swanson; Michelle L. Kluge; D. Brian Dawson; Xiayuan Liang; Tyler J. Winkler; Charles W. Breaux; Rachel Lacount; Christopher C. Silliman

doi:10.3109/03630269.2013.853672

Hb grand junction (HBB: C.348-349delinsG; P.His117IlefsX42): A new hyperunstable hemoglobin variant

Michael W. Kent
, Jennifer L. Oliveira
, James D. Hoyer
, Kenneth C. Swanson
, Michelle L. Kluge
, D. Brian Dawson
, Xiayuan Liang
, Tyler J. Winkler
, Charles W. Breaux
, Rachel Lacount
, Christopher C. Silliman

Laboratory Medicine and Pathology

Research output: Contribution to journal › Article › peer-review

4 Scopus citations

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)
Pages (from-to)	8-12
Number of pages	5
Journal	Hemoglobin
Volume	38
Issue number	1
DOIs	https://doi.org/10.3109/03630269.2013.853672
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

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@article{953dac20631744dcadaecc9719cd1e87,

title = "Hb grand junction (HBB: C.348-349delinsG; P.His117IlefsX42): A new hyperunstable hemoglobin variant",

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.",

keywords = "Dominantly inherited β-thalassemia (β-thal), Heinz body hemolytic anemia, Inclusion body, Unstable hemoglobin (Hb)",

author = "Kent, \{Michael W.\} and Oliveira, \{Jennifer L.\} and Hoyer, \{James D.\} and Swanson, \{Kenneth C.\} and Kluge, \{Michelle L.\} and Dawson, \{D. Brian\} and Xiayuan Liang and Winkler, \{Tyler J.\} and Breaux, \{Charles W.\} and Rachel Lacount and Silliman, \{Christopher C.\}",

note = "Funding Information: This study was supported in part by the Bonfils Blood Center, Denver, CO, USA, The Department of Pediatrics, School of Medicine, University of Colorado Denver, Aurora, CO, USA and grant P50 GM049222 from the National Institute of General Medical Sciences, National Institutes of Health, Bethesda, MD, USA. The authors report no conflicts of interest. The authors alone are responsible for the content and writing of this article.",

year = "2014",

doi = "10.3109/03630269.2013.853672",

language = "English (US)",

volume = "38",

pages = "8--12",

journal = "Hemoglobin",

issn = "0363-0269",

publisher = "Taylor and Francis Ltd.",

number = "1",

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TY - JOUR

T1 - Hb grand junction (HBB: C.348-349delinsG; P.His117IlefsX42)

T2 - A new hyperunstable hemoglobin variant

AU - Kent, Michael W.

AU - Oliveira, Jennifer L.

AU - Hoyer, James D.

AU - Swanson, Kenneth C.

AU - Kluge, Michelle L.

AU - Dawson, D. Brian

AU - Liang, Xiayuan

AU - Winkler, Tyler J.

AU - Breaux, Charles W.

AU - Lacount, Rachel

AU - Silliman, Christopher C.

N1 - Funding Information: This study was supported in part by the Bonfils Blood Center, Denver, CO, USA, The Department of Pediatrics, School of Medicine, University of Colorado Denver, Aurora, CO, USA and grant P50 GM049222 from the National Institute of General Medical Sciences, National Institutes of Health, Bethesda, MD, USA. The authors report no conflicts of interest. The authors alone are responsible for the content and writing of this article.

PY - 2014

Y1 - 2014

N2 - 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.

AB - 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.

KW - Dominantly inherited β-thalassemia (β-thal)

KW - Heinz body hemolytic anemia

KW - Inclusion body

KW - Unstable hemoglobin (Hb)

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Hb grand junction (HBB: C.348-349delinsG; P.His117IlefsX42): A new hyperunstable hemoglobin variant

Abstract

Keywords

ASJC Scopus subject areas

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