Comprehensive Analysis of Mitochondrial and Nuclear DNA Variations in Patients Affected by Hemoglobinopathies: A Pilot Study

Overview

Journal PLoS One

Specialties General Medicine
Science

Date 2020 Oct 22

PMID 33091040

Citations 2

Authors

Ylenia Barbanera

Francesco Arcioni

Hovirag Lancioni

Roberta La Starza

Irene Cardinali

Caterina Matteucci

Valeria Nofrini

Antonella Roetto

Antonio Piga

Paola Grammatico

Maurizio Caniglia

Cristina Mecucci

Paolo Gorello

Affiliations

Soon will be listed here.

Abstract

The hemoglobin disorders are the most common single gene disorders in the world. Previous studies have suggested that they are deeply geographically structured and a variety of genetic determinants influences different clinical phenotypes between patients inheriting identical β-globin gene mutations. In order to get new insights into the heterogeneity of hemoglobin disorders, we investigated the molecular variations on nuclear genes (i.e. HBB, HBG2, BCL11A, HBS1L and MYB) and mitochondrial DNA control region. This pilot study was carried out on 53 patients belonging to different continents and molecularly classified in 4 subgroup: β-thalassemia (β+/β+, β0/β0 and β+/β0)(15), sickle cell disease (HbS/HbS)(20), sickle cell/β-thalassemia (HbS/β+ or HBS/β0)(10), and non-thalassemic compound heterozygous (HbS/HbC, HbO-Arab/HbC)(8). This comprehensive phylogenetic analysis provided a clear separation between African and European patients either in nuclear or mitochondrial variations. Notably, informing on the phylogeographic structure of affected individuals, this accurate genetic stratification, could help to optimize the diagnostic algorithm for patients with uncertain or unknown origin.

Citing Articles

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