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- Title
Comprehensive analysis of mitochondrial and nuclear DNA variations in patients affected by hemoglobinopathies: A pilot study.
- Authors
Barbanera, Ylenia; Arcioni, Francesco; Lancioni, Hovirag; La Starza, Roberta; Cardinali, Irene; Matteucci, Caterina; Nofrini, Valeria; Roetto, Antonella; Piga, Antonio; Grammatico, Paola; Caniglia, Maurizio; Mecucci, Cristina; Gorello, Paolo
- 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/β0and 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. Author summary: Worldwide most frequent genetic diseases are represented by a very heterogeneous group of congenital hemolytic anaemias which include β-thalassemia and sickle cell anaemia. They are deeply geographically structured and characterized by high complexity of the genetic background associated with variable clinical severities. Due to this heterogeneity we investigated the nuclear and mitochondrial DNA marker variations in patients with hemoglobinopathies in order to provide the first comprehensive genetic stratification of these hereditary disease. This study contributes to detail the multifaceted picture of hemoglobin disorders.
- Subjects
NUCLEAR DNA; SICKLE cell anemia; GENETIC mutation; MITOCHONDRIAL DNA; GENETIC disorders; PILOT projects
- Publication
PLoS ONE, 2020, Vol 15, Issue 10, p1
- ISSN
1932-6203
- Publication type
Article
- DOI
10.1371/journal.pone.0240632