Journal Article

δ-Thalassemic phenotype due to two \novel\ δ-globin gene mutations: CD11GTC → GGC (A8)-HbA2-pylos and CD 85 TTT → TCT (F1)-HbA2-etolia

Papadakis, Manoussos, Drakoulakou, Olga, Papapanagiotou, Elisavet, Loutradi-Anagnostou, Afrodite

1997

Overview

δ‐Thalassemia reduces the expected HbA2 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 HbA2 (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 (:HbA2‐Pylos) and the cd85 (TTT→TCT) resulting in the substitution of phenylalanine for serine (:HbA2‐Etolia). Because these mutations are localized at the helical positions A8 and F1 of the HbA2 respectively, they potentially cause molecular instability of the tetramer, thus leading to reduced HbA2 percentage. Hum Mutat 9:344–347, 1997. © 1997 Wiley‐Liss, Inc.

• Publisher: Wiley Subscription Services, Inc., A Wiley Company
• Subject: Adult / DNA Mutational Analysis / Genes - genetics / Globins - genetics / Greece / HbA2-Etolia / HbA2-Pylos / Hemoglobin A2 - genetics / Hemoglobins, Abnormal - genetics / Humans / Phenotype / Point Mutation - genetics / Thalassemia - genetics / δ-globin gene mutations / δ-thalassemia