Hb Gibbon [β124(H2)Pro→Thr (HBB: c.373C>A, p.P125T)], an Asymptomatic Novel Hemoglobin Variant Detected by Newborn Screening

Alejandro Wolf; Joseph M. Rohr; Catalina Amador; Lois J. Starr; James D. Hoyer; James B. Ford

doi:10.1080/03630269.2019.1634591

Hb Gibbon [β124(H2)Pro→Thr (HBB: c.373C>A, p.P125T)], an Asymptomatic Novel Hemoglobin Variant Detected by Newborn Screening

Alejandro Wolf, Joseph M. Rohr, Catalina Amador, Lois J. Starr, James D. Hoyer, James B. Ford

Laboratory Medicine and Pathology

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

1 Scopus citations

Abstract

We describe here a previously unreported hemoglobin (Hb) variant, Hb Gibbon [β124(H2)Pro→Thr (HBB: c.373C>A, p.P125T)] detected by newborn Hb screening in a term male with no family history for hemoglobinopathy or other screening abnormalities. This missense mutation produces a β-globin chain variant that was detected by high performance liquid chromatography (HPLC) methods, but is silent by capillary electrophoresis (CE). DNA sequencing studies revealed that his father was also a heterozygote for this mutation. Neither has abnormalities on complete blood count (CBC) or any symptomatology.

Original language	English (US)
Pages (from-to)	207-209
Number of pages	3
Journal	Hemoglobin
Volume	43
Issue number	3
DOIs	https://doi.org/10.1080/03630269.2019.1634591
State	Published - May 4 2019

Keywords

Capillary electrophoresis (CE)
hemoglobinopathy
high performance liquid chromatography (HPLC)
neonatal screening

ASJC Scopus subject areas

Hematology
Genetics(clinical)
Clinical Biochemistry
Biochemistry, medical

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10.1080/03630269.2019.1634591

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title = "Hb Gibbon [β124(H2)Pro→Thr (HBB: c.373C>A, p.P125T)], an Asymptomatic Novel Hemoglobin Variant Detected by Newborn Screening",

abstract = "We describe here a previously unreported hemoglobin (Hb) variant, Hb Gibbon [β124(H2)Pro→Thr (HBB: c.373C>A, p.P125T)] detected by newborn Hb screening in a term male with no family history for hemoglobinopathy or other screening abnormalities. This missense mutation produces a β-globin chain variant that was detected by high performance liquid chromatography (HPLC) methods, but is silent by capillary electrophoresis (CE). DNA sequencing studies revealed that his father was also a heterozygote for this mutation. Neither has abnormalities on complete blood count (CBC) or any symptomatology.",

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AU - Wolf, Alejandro

AU - Rohr, Joseph M.

AU - Amador, Catalina

AU - Starr, Lois J.

AU - Hoyer, James D.

AU - Ford, James B.

PY - 2019/5/4

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AB - We describe here a previously unreported hemoglobin (Hb) variant, Hb Gibbon [β124(H2)Pro→Thr (HBB: c.373C>A, p.P125T)] detected by newborn Hb screening in a term male with no family history for hemoglobinopathy or other screening abnormalities. This missense mutation produces a β-globin chain variant that was detected by high performance liquid chromatography (HPLC) methods, but is silent by capillary electrophoresis (CE). DNA sequencing studies revealed that his father was also a heterozygote for this mutation. Neither has abnormalities on complete blood count (CBC) or any symptomatology.

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KW - hemoglobinopathy

KW - high performance liquid chromatography (HPLC)

KW - neonatal screening

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Hb Gibbon [β124(H2)Pro→Thr (HBB: c.373C>A, p.P125T)], an Asymptomatic Novel Hemoglobin Variant Detected by Newborn Screening

Abstract

Keywords

ASJC Scopus subject areas

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