Hb Penang [78(EF2)LeuPro, HBB: c.236T>C]: a Novel -Globin Variant

被引：0

作者：

Hsu, Catherine H-W. ^{[1
]}

Langdown, Jonathan ^{[1
]}

Lynn, Roderick ^{[1
]}

Fisher, Chris ^{[2
]}

Rose, Anna ^{[2
]}

Proven, Melanie ^{[3
]}

Eglinton, Jennifer ^{[3
]}

Besser, Martin W. ^{[1
]}

机构：

[1] Addenbrookes Hosp, Dept Haematol, Cambridge, Cambs, England

[2] John Radliffe Hosp, Weatherall Inst Mol Med, Mol Haematol Unit, MRC, Headley Way, Oxford, Oxon, England

[3] John Radcliffe Hosp, Oxford Univ NHS Fdn Trust, Natl Haemoglobinopathy Reference Lab, Level 4,Headley Way, Oxford, Oxon, England

来源：

HEMOGLOBIN | 2018年 / 42卷 / 03期

关键词：

Hemoglobin (Hb) chain; hemoglobinopathy trait; unstable Hb; variant; SUBSTITUTIONS; TOOL;

D O I：

10.1080/03630269.2018.1513849

中图分类号：

Q5 [生物化学]; Q7 [分子生物学];

学科分类号：

071010 ; 081704 ;

摘要：

We report a novel hemoglobin (Hb) variant with a 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).

引用

页码：199 / 202

页数：4

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Hb Penang [78(EF2)LeuPro, HBB: c.236T&gt;C]: a Novel -Globin Variant

Hb Penang [78(EF2)LeuPro, HBB: c.236T>C]: a Novel -Globin Variant