Role of alternatively spliced beta E-globin mRNA on clinical severity of beta-thalassemia/hemoglobin E disease.
Southeast Asian J Trop Med Public Health
;
1995 ; 26 Suppl 1(): 241-5
Article
Dans Anglais
| IMSEAR
| ID: sea-30892
ABSTRACT
In spite of seemingly identical genotypes, severity of beta-thalassemia/hemoglobin (Hb) E patients can vary greatly. Some may have a severe clinical disorder approaching that seen in homozygous beta-thalassemia. Since mutation in codon 26 of the beta E-globin gene can lead to an alternative splicing, Hb E acts like a mild beta(+)-thalassemia. Variation in the amount of beta E-globin mRNA may also govern the difference in severity of anemia in beta-thalassemia/Hb E patients who otherwise have the same genetic determinants. We have determined the percentage of the alternatively spliced beta E-globin mRNA by the RT-PCR technique in 14 patients and found that the amount of abnormal spliced beta E-globin mRNA in those patients with severe symptoms ranged between 2.9 to 6.1%, whereas those with milder symptoms had the values which ranged between 1.6 to 2.6%. The extent of beta E-globin mRNA cryptic splicing was better associated with clinical severity of the patients than did the patterns of the Xmn I polymorphism at position -158 of the G gamma-globin gene or levels of Hb F.
Texte intégral:
Disponible
Indice:
IMSEAR (Asie du Sud-Est)
Sujet Principal:
Femelle
/
Humains
/
Mâle
/
Codon
/
Hémoglobine E
/
ARN messager
/
Données de séquences moléculaires
/
Séquence nucléotidique
/
Réaction de polymérisation en chaîne
/
Adolescent
langue:
Anglais
Texte intégral:
Southeast Asian J Trop Med Public Health
Année:
1995
Type:
Article
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