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

Catherine H-W. HsuDepartment of Haematology, Addenbrooke’s Hospital, Cambridge, Cambridgeshire, UK;

Jonathan LangdownDepartment of Haematology, Addenbrooke’s Hospital, Cambridge, Cambridgeshire, UK;

Roderick LynnDepartment of Haematology, Addenbrooke’s Hospital, Cambridge, Cambridgeshire, UK;

Chris FisherMedical Research Council (MRC) Molecular Haematology Unit, Weatherall Institute for Molecular Medicine, John Radliffe Hospital, Headley Way, Headington, Oxford, Oxfordshire, UK;

Anna RoseMedical Research Council (MRC) Molecular Haematology Unit, Weatherall Institute for Molecular Medicine, John Radliffe Hospital, Headley Way, Headington, Oxford, Oxfordshire, UK;

Melanie ProvenNational Haemoglobinopathy Reference Laboratory, Oxford University NHS Foundation Trust, Level 4, John Radcliffe Hospital, Headley Way, Headington, Oxford, Oxfordshire, UK

Jennifer EglintonNational Haemoglobinopathy Reference Laboratory, Oxford University NHS Foundation Trust, Level 4, John Radcliffe Hospital, Headley Way, Headington, Oxford, Oxfordshire, UK

Martin W. BesserDepartment of Haematology, Addenbrooke’s Hospital, Cambridge, Cambridgeshire, UK; Correspondence[email protected]

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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).

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Disclosure statement

Dr. Martin W. Besser received a fee from Alexion (Uxbridge, UK), and from Vifor Pharma (Glattbrug, Zürich, Switzerland); an honorarium was received from Stago (Reading, Berkshire, UK). Support for the study was also received from Cosmopharma (Reading, Berkshire, UK) and HemoSonics LLC (Charlotteville, VA, USA).

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

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

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