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 Hoyer, James B. Ford

Research output: Contribution to journalArticle

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 languageEnglish (US)
JournalHemoglobin
DOIs
StateAccepted/In press - Jan 1 2019

Fingerprint

Hylobates
Screening
Hemoglobins
Newborn Infant
Hemoglobinopathies
Capillary electrophoresis
Globins
Blood Cell Count
Capillary Electrophoresis
High performance liquid chromatography
Missense Mutation
Heterozygote
DNA Sequence Analysis
Fathers
Blood
High Pressure Liquid Chromatography
Mutation
DNA

Keywords

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

ASJC Scopus subject areas

  • Hematology
  • Genetics(clinical)
  • Clinical Biochemistry
  • Biochemistry, medical

Cite this

Hb Gibbon [β124(H2)Pro→Thr (HBB : c.373C>A, p.P125T)], an Asymptomatic Novel Hemoglobin Variant Detected by Newborn Screening. / Wolf, Alejandro; Rohr, Joseph M.; Amador, Catalina; Starr, Lois J.; Hoyer, James; Ford, James B.

In: Hemoglobin, 01.01.2019.

Research output: Contribution to journalArticle

Wolf, Alejandro ; Rohr, Joseph M. ; Amador, Catalina ; Starr, Lois J. ; Hoyer, James ; Ford, James B. / Hb Gibbon [β124(H2)Pro→Thr (HBB : c.373C>A, p.P125T)], an Asymptomatic Novel Hemoglobin Variant Detected by Newborn Screening. In: Hemoglobin. 2019.
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