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Hemoglobin. 2019 Aug 6:1-3. doi: 10.1080/03630269.2019.1634591. [Epub ahead of print]

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

Author information

1
a Department of Pathology and Microbiology, University of Nebraska Medical Center , Omaha , NE , USA.
2
b Department of Pediatrics, Children's Hospital and Medical Center , University of Nebraska Medical Center , Omaha , NE , USA.
3
c Department of Laboratory Medicine and Pathology, Mayo Clinic , Rochester , MN , USA.

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.

KEYWORDS:

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

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