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

doi:10.1080/03630260701613210

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Article

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

Hemoglobin - 1 Jan 2007

Agouti Imane, Bennani Mohcine, Ahmed Abouyoub, Barakat Amina, Mohamed Khattab, Badens Catherine

Abstract excerpt

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...

Topics

Adult
Child
Female
Globins
Haplotypes
Homozygote
Humans
Introns
Male
Mutation
beta-Thalassemia

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