Hb H hydrops fetalis syndrome associated with the interaction of two common determinants of alpha thalassaemia (--MED/(alpha)TSaudi(alpha)).
Br J Haematol
; 117(3): 759-62, 2002 Jun.
Article
em En
| MEDLINE
| ID: mdl-12028055
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 time that the interaction between two relatively common forms of alpha thalassaemia (--MED/(alpha)TSaudi(alpha)) may be associated with a clinically severe form of alpha thalassaemia, Hb H hydrops fetalis.
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Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Globinas
/
Hidropisia Fetal
/
Talassemia alfa
/
Mutação
Tipo de estudo:
Risk_factors_studies
Limite:
Adult
/
Female
/
Humans
/
Male
/
Newborn
Idioma:
En
Revista:
Br J Haematol
Ano de publicação:
2002
Tipo de documento:
Article
País de afiliação:
Reino Unido