Thalassemia intermedia due to a novel mutation in the second intervening sequence of the β-globin gene

被引：6

作者：

Agouti, Imane

Bennani, Mohcine

Ahmed, Abouyoub

Barakat, Amina

Mohamed, Khattab

Badens, Catherine

机构：

[1] Laboratoire de Biologie Appliquée, Faculté des Sciences et Techniques, Tanger

[2] Centre Régional de Transfusion Sanguine de Rabat, Rabat

[3] Service d'Hémato-Oncologie Pédiatrique, Hôpital d'Enfant, Rabat

[4] Laboratoire de Génétique Moléculaire, Hôpital d'Enfant de la Timone, Marseille

[5] Centre d'Enseignement et de Recherche en Génétique Médicale, Faculté de Médecine, 13385 Marseille Cedex 5, 27, Bd Jean Moulin

来源：

HEMOGLOBIN | 2007年 / 31卷 / 04期

关键词：

beta-Thalassemia (thal) intermedia; Mutations; Second intervening sequence (IVS-II);

D O I：

10.1080/03630260701613210

中图分类号：

Q5 [生物化学]; Q7 [分子生物学];

学科分类号：

071010 [生物化学与分子生物学]; 081704 [应用化学];

摘要：

We describe a new b-thalassemia (thal) mutation in the b-globin gene of an 8-year-old Moroccan boy. This homozygous mutation produces a phenotype of thalassemia intermedia and is associated with the Mediterranean haplotype IX. We discuss the pathophysiological consequences of this mutation which is located near the 3' end of the second intervening sequence (IVS-II) of the b-globin gene.

引用

页码：433 / 438

页数：6

共 14 条

[1]

DNA POLYMORPHISM AND MOLECULAR PATHOLOGY OF THE HUMAN GLOBIN GENE CLUSTERS [J].