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Compound heterozygosity of non-deletional hereditary persistence of fetal hemoglobin and δβ-thalassemia

✍ Scribed by Angelos Kalamaras; Christos Chassanidis; Maria Samara; Manoussos N. Papadakis; Andromachi Vagena; Vassiliki Aleporou-Marinou; George P. Patrinos; Panagoula Kollia


Publisher
John Wiley and Sons
Year
2008
Tongue
English
Weight
306 KB
Volume
83
Category
Article
ISSN
0361-8609

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We have identified three unrelated individuals and three members of a family with the non-deletion form of A ␥-hereditary persistence of fetal hemoglobin (HPFH). Molecular analysis showed that each individual is a heterozygote for a previously described -195 A ␥ (C→G) mutation. The ␤-globin gene clu