Compound Heterozygosity for Silent Cap +1570 (T>C) (HBB: c96T>C), Codon 39 (C>T) (HBB: c.118C>T) and the Presence of αααanti-3.7/αα in Greece. A Case Presentation

The rare point mutation Cap +1570 (T>C) (HBB: c*96T>C) has been reported in families of Czech, Greek, Turkish and Italian origin. The mutation contributes to a reduction of the β-globin chain synthesis, and in heterozygous carriers, it causes a silent phenotype, while in compound heterozygosit...

Full description

Saved in:
Bibliographic Details
Published in:Hemoglobin 2018-05, Vol.42 (3), p.194-195
Main Authors: Theodoridou, Stamatia, Vyzantiadis, Timoleon-Achilleas, Vlachaki, Efthymia
Format: Article
Language:English
Subjects:
genetic counseling
silent mutation
β-Thalassemia intermedia (β-TI)
Citations: Items that this one cites
Items that cite this one
Online Access:Get full text
Tags: Add Tag
No Tags, Be the first to tag this record!
Description
Summary:The rare point mutation Cap +1570 (T>C) (HBB: c*96T>C) has been reported in families of Czech, Greek, Turkish and Italian origin. The mutation contributes to a reduction of the β-globin chain synthesis, and in heterozygous carriers, it causes a silent phenotype, while in compound heterozygosity with severe β-thalassemia (β-thal) mutations, it leads to a non transfusion dependent β-thal intermedia (β-TI) state. We report a case of compound heterozygosity for codon 39 (C>T) (HBB: c.118C>T) and Cap +1570, in addition to the presence of ααα anti-3.7 /αα.
ISSN:0363-0269
1532-432X
DOI:10.1080/03630269.2018.1495648