Molecular diagnosis of α‐thalassemia in a multiethnic population

O Gilad, OS Shemer, O Dgany… - European journal of …, 2017 - Wiley Online Library
Objective α‐Thalassemia, one of the most common genetic diseases, is caused by deletions
or point mutations affecting one to four α‐globin genes. Molecular diagnosis is important to …

Molecular and hematological characteristics of a novel form of α-globin gene triplication: the hemoglobin St. Luke's-Thailand [α95 (G2) Pro→ Arg] or Hb St. Luke's [A2] …

K Singha, G Fucharoen, A Jetsrisuparb… - Clinical Biochemistry, 2013 - Elsevier
OBJECTIVES: This study aims to report a hitherto un-described α-globin gene triplicated
allele with a novel hemoglobin (Hb) variant on α2-globin gene, Hb St. Luke's-Thailand [α95 …

Hb Setif [α94 (G1) Asp→ Tyr (α2)] detected in a Turkish family

G Dinçol, D Elam, A Kutlar, F Kutlar - Hemoglobin, 2003 - Taylor & Francis
Hb Setif results from a G! T substitution (GAC! TAC) at codon 94 of the a2-globin gene,
changing the aspartic acid to a tyrosine at residue 94 of the a chain (1). The variant was first …

Detection of Hb Setif in north Iran and the question of its origin: Iranian or multiethnic?

MR Mahdavi, M Karimi, M Yavarian, P Roshan… - …, 2011 - Taylor & Francis
Hb Setif is a rare type of hemoglobinopathy resulting from an aspartic acid to tyrosine
substitution at codon 94 (GAC> TAC) of the α2-globin gene. In manual and automated …

Alpha chain hemoglobins with electrophoretic mobility similar to that of hemoglobin S in a newborn screening program

MR Silva, SM Sendin, ICO Araujo… - Revista Brasileira de …, 2013 - SciELO Brasil
OBJECTIVE: To characterize alpha-chain variant hemoglobins with electric mobility similar
to that of hemoglobin S in a newborn screening program. METHODS: βS allele and alpha …

The beautiful world of human haemoglobin (revisited)

A Felice - 2023 - um.edu.mt
In this article I sought to tell two stories that were closely tied to each other. One was
somewhat personal. It had to do with the course of my professional life, in Malta, the USA …

Hb RAMPA [α95(G2)Pro→Ser (α2)] IN A FAMILY OF EUROPEAN ANCESTRY: DNA ANALYSIS CONFIRMS THE C CG→T CG MUTATION AT CODON 95 OF THE …

JD Hoyer, E Rachut, KS Kubik, RT Jones, GR Honig… - …, 2002 - Taylor & Francis
A 53-year-old asymptomatic male of German ancestry was examined because his half-sister
had been found to have Hb S trait, according to a state neonatal screening program for …