Thalassemia Intermedia Due to a Novel Mutation in the Second Intervening Sequence of the β-Globin Gene
2007
We describe a new β-thalassemia (thal) mutation in the β-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 β-globin gene.
Keywords:
- Correction
- Source
- Cite
- Save
- Machine Reading By IdeaReader
14
References
5
Citations
NaN
KQI