Hb Penang [β78(EF2)Leu→Pro, HBB: c.236T>C]: a Novel β-Globin Variant

Hsu CH 1 , Langdown J 1 , Lynn R 1 , Fisher C 2 , Rose A 2 , Proven M 3 Show all authors , Eglinton J 3 , Besser MW 1

Affiliations 

  • 1 a Department of Haematology , Addenbrooke's Hospital , Cambridge , Cambridgeshire , UK
  • 2 b Medical Research Council (MRC) Molecular Haematology Unit, Weatherall Institute for Molecular Medicine , John Radliffe Hospital , Headley Way, Headington , Oxford , Oxfordshire , UK
  • 3 c National Haemoglobinopathy Reference Laboratory , Oxford University NHS Foundation Trust , Level 4, John Radcliffe Hospital, Headley Way, Headington , Oxford , Oxfordshire , UK
Hemoglobin, 2018 May;42(3):199-202.
PMID: 30328734 DOI: 10.1080/03630269.2018.1513849

Abstract

We report a novel hemoglobin (Hb) variant with a β chain amino acid substitution at codon 78 (CTG>CCG) (HBB: c.236T>C), detected through prenatal screening via capillary electrophoresis (CE) in an otherwise healthy and asymptomatic 38-year-old female of Southeast Asian ancestry. The variant, named Hb Penang after the proband's Malaysian city of origin, underwent further characterization through high performance liquid chromatography (HPLC), reversed phase HPLC, Sanger sequencing, isopropanol stability testing and isoelectric focusing (IEF).

* Title and MeSH Headings from MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine.

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