HbF-Lesvos: an HbF variant due to a novel G gamma mutation (:G gamma 75 ATA-->ACA) detected in a Greek family

M N Papadakis; G P Patrinos; O Drakoulakou; A Loutradi-Anagnostou

doi:10.1007/BF02265278

HbF-Lesvos: an HbF variant due to a novel G gamma mutation (:G gamma 75 ATA-->ACA) detected in a Greek family

Hum Genet. 1996 Feb;97(2):260-2. doi: 10.1007/BF02265278.

Authors

M N Papadakis¹, G P Patrinos, O Drakoulakou, A Loutradi-Anagnostou

Affiliation

¹ LAIKON General Hospital, Center for Thalassemia, Unit of Prenatal Diagnosis, Athens, Greece.

PMID: 8566966
DOI: 10.1007/BF02265278

Abstract

A T-->C substitution at position 402 of the G gamma globin gene results in an isoleucine to threonine substitution at codon 75 of the G gamma globin chain and the formation of HbF-Lesvos [alpha2 G gamma2 75 (E19) Ile-->Thr].

Publication types

Research Support, Non-U.S. Gov't

MeSH terms

Amino Acid Sequence
Base Sequence
DNA Mutational Analysis
Female
Fetal Blood
Fetal Hemoglobin / genetics*
Globins / genetics*
Globins / isolation & purification
Greece
Hemoglobins, Abnormal / genetics*
Humans
Molecular Sequence Data
Point Mutation / genetics*

Substances

Hemoglobins, Abnormal
hemoglobin F Lesvos
Globins
Fetal Hemoglobin