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Article

The molecular characterization of Beta globin gene in thalassemia patients reveals rare and a novel mutations in Pakistani population.

European journal of medical genetics - 1 Aug 2016

Yasmeen Humaira, Toma Sarmad, Killeen Natalie, Hasnain Shahida, Foroni Letizia

Abstract excerpt

INTRODUCTION: A multicentre study (including four cities in Pakistan) aimed to investigate the frequency and spectrum of alpha and beta thalassemia genetic mutations and XmnI polymorphism of the Gamma Globin gene. METHODS: One hundred and sixty one beta thalassemia patients, identified on the ground of haematological parameters, were screened for mutations of the Alpha (HBA2 and HBA1) and Beta (HBB) Globin genes...

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Source

Identifiers

PMID: 27263053
DOI: 10.1016/j.ejmg.2016.05.016

Genes

HBB
HBG2
HBA1
HBA2

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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