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

Research output: Contribution to journalArticle

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 languageEnglish (US)
Pages (from-to)207-209
Number of pages3
JournalHemoglobin
Volume43
Issue number3
DOIs
StatePublished - May 4 2019

Keywords

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

ASJC Scopus subject areas

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

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