Cookies on this website

We use cookies to ensure that we give you the best experience on our website. If you click 'Accept all cookies' we'll assume that you are happy to receive all cookies and you won't see this message again. If you click 'Reject all non-essential cookies' only necessary cookies providing core functionality such as security, network management, and accessibility will be enabled. Click 'Find out more' for information on how to change your cookie settings.

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).

Original publication

DOI

10.1080/03630269.2018.1513849

Type

Journal article

Journal

Hemoglobin

Publication Date

05/2018

Volume

42

Pages

199 - 202

Keywords

Hemoglobin (Hb) β chain, hemoglobinopathy trait, unstable Hb, variant, Adult, Chromatography, High Pressure Liquid, Electrophoresis, Capillary, Female, Hemoglobins, Abnormal, Humans, Isoelectric Focusing, Malaysia, Pregnancy, Prenatal Diagnosis, Protein Stability, Sequence Analysis, DNA, beta-Globins