Premium
δ‐Thalassemic phenotype due to two “novel” δ‐globin gene mutations: CD11[GTC → GGC (A8)‐HbA 2 ‐pylos] and CD 85 [TTT → TCT (F1)‐HbA 2 ‐etolia]
Author(s) -
Drakoulakou Olga,
Papapanagiotou Elisavet,
LoutradiAnagnostou Afrodite,
Papadakis Manoussos
Publication year - 1997
Publication title -
human mutation
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.981
H-Index - 162
eISSN - 1098-1004
pISSN - 1059-7794
DOI - 10.1002/(sici)1098-1004(1997)9:4<344::aid-humu7>3.0.co;2-5
Subject(s) - biology , genetics , tetramer , gene , mutation , coding region , thalassemia , phenotype , microbiology and biotechnology , biochemistry , enzyme
δ‐Thalassemia reduces the expected HbA 2 percentage, altering the normal as well as the β‐thalassemia trait phenotype. An attempt to elucidate the molecular basis of δ‐thalassemia in the Greek population, revealed two cases with unknown molecular defects that presented low levels of HbA 2 (about 1.5%). DNA sequence analysis of δ‐globin gene identified two “novel” mutations in the coding regions of the gene; the cd11 (GTC→GGC) resulting in the substitution of valine for glycine (:HbA 2 ‐Pylos) and the cd85 (TTT→TCT) resulting in the substitution of phenylalanine for serine (:HbA 2 ‐Etolia). Because these mutations are localized at the helical positions A8 and F1 of the HbA 2 respectively, they potentially cause molecular instability of the tetramer, thus leading to reduced HbA 2 percentage. Hum Mutat 9:344–347, 1997. © 1997 Wiley‐Liss, Inc.