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A study of δ-globin gene mutations in the UK population: identification of three novel variants and development of a novel DNA test for Hb A'2.

Abstract:

We report here the spectrum of δ-globin gene mutations found in the UK population. Nine different δ chain variants and two δ-thalassemia (δ-thal) mutations were characterized in a study of 127 alleles in patients with either a low Hb A2 value or a split Hb A2 peak on high performance liquid chromatography (HPLC). The most common δ chain variant was Hb [Formula: see text] (or Hb B2) [δ16(A13)Gly → Arg; HBD: c.49G > C] (77.0%), followed by Hb A2-Yialousa [δ27(B9)Ala → Ser; HBD: c.82G > T]...

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Publication status:
Published

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Publisher:
Informa Healthcare
Journal:
Hemoglobin
Volume:
38
Issue:
3
Pages:
201-206
Publication date:
2014-01-01
DOI:
EISSN:
1532-432X
ISSN:
0363-0269
Source identifiers:
452124
Language:
English
Keywords:
Pubs id:
pubs:452124
UUID:
uuid:b6b5e854-47d1-444a-881e-e358878f30ff
Local pid:
pubs:452124
Deposit date:
2014-05-12

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