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Hb H hydrops fetalis syndrome associated with the interaction of two common determinants of alpha thalassaemia (--MED/(alpha)TSaudi(alpha)).

Abstract:

To date, more than 35 single or oligonucleotide mutations of the alpha genes that cause alpha thalassaemia have been described. Their interactions give rise to widely variable clinical manifestations, from a mild hypochromic, microcytic anaemia to a lethal intrauterine anaemia associated with hydrops fetalis. Understanding the molecular genetics enables accurate genotyping, genetic counselling and prenatal testing for the most severe forms of alpha thalassaemia. Here we show for the first tim...

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Publication status:
Published

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Institution:
University of Oxford
Division:
MSD
Department:
RDM
Sub department:
Weatherall Insti. of Molecular Medicine
Role:
Author
Journal:
British journal of haematology More from this journal
Volume:
117
Issue:
3
Pages:
759-762
Publication date:
2002-06-01
DOI:
EISSN:
1365-2141
ISSN:
0007-1048
Language:
English
Keywords:
Pubs id:
pubs:124705
UUID:
uuid:a769af70-9f85-43af-b9c3-a0ba7ece0f18
Local pid:
pubs:124705
Source identifiers:
124705
Deposit date:
2012-12-19

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