Thalassemia intermedia due to a novel mutation in the second intervening sequence of the beta-globin gene.
We describe a new beta-thalassemia (thal) mutation in the beta-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 beta-globin gene.
Agouti
Imane
I
Laboratoire de Biologie Appliquée, Faculté des Sciences et Techniques, Tanger, Maroc.
Bennani
Mohcine
M
Ahmed
Abouyoub
A
Barakat
Amina
A
Mohamed
Khattab
K
Badens
Catherine
C
D000328:Adult; D002648:Child; D005260:Female; D005914:Globins / Q000737:chemistry / Q000235:genetics*; D006239:Haplotypes; D006720:Homozygote; D006801:Humans; D007438:Introns; D008297:Male; D009154:Mutation; D017086:beta-Thalassemia / Q000175:diagnosis / Q000235:genetics*
D005914:Globins