Evidence map›Paper›PMID 33091040›Full record

ArticlePloS one2020

Comprehensive analysis of mitochondrial and nuclear DNA variations in patients affected by hemoglobinopathies: A pilot study.

Ylenia Barbanera, Francesco Arcioni, Hovirag Lancioni, Roberta La Starza, Irene Cardinali, Caterina Matteucci, Valeria Nofrini, Antonella Roetto, Antonio Piga, Paola Grammatico and 3 more

Open access · goldAbstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in PloS one, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.

0numbers the graph read from it
0cells of the map it votes in
2citing papers in PubMed
0.4field-weighted citation impact, top 37% of its field
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

2 citing papers in PubMed, 3 citations in OpenAlex.

  1. Article
  2. Review
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

13 authors at 4 institutions in 1 country.

Ylenia BarbaneraDepartment of Medicine, Hematology, University of Perugia, Perugia, Italy.ORCID 0000-0002-5845-7447
Francesco ArcioniPediatric Oncohematology, Hospital Santa Maria della Misericordia, Perugia, Italy.
Hovirag LancioniDepartment of Chemistry, Biology and Biotechnology, University of Perugia, Perugia, Italy.
Roberta La StarzaDepartment of Medicine, Hematology, University of Perugia, Perugia, Italy.
Irene CardinaliDepartment of Chemistry, Biology and Biotechnology, University of Perugia, Perugia, Italy.ORCID 0000-0003-0632-9993
Caterina MatteucciDepartment of Medicine, Hematology, University of Perugia, Perugia, Italy.ORCID 0000-0002-9553-4819
Valeria NofriniDepartment of Medicine, Hematology, University of Perugia, Perugia, Italy.
Antonella RoettoDepartment of Clinical and Biological Sciences, University of Turin, Hospital San Luigi Gonzaga, Turin, Italy.
Antonio PigaDepartment of Clinical and Biological Sciences, University of Turin, Hospital San Luigi Gonzaga, Turin, Italy.ORCID 0000-0002-2197-1899
Paola GrammaticoDepartment of Molecular Medicine, Laboratory of Medical Genetics, San Camillo-Forlanini Hospital, Sapienza University, Rome, Italy.
Maurizio CanigliaPediatric Oncohematology, Hospital Santa Maria della Misericordia, Perugia, Italy.ORCID 0000-0001-6650-3397
Cristina MecucciDepartment of Medicine, Hematology, University of Perugia, Perugia, Italy.ORCID 0000-0002-1623-0148
Paolo GorelloDepartment of Medicine, Hematology, University of Perugia, Perugia, Italy.ORCID 0000-0003-2473-778X
University of Perugia · ITOspedale Santa Maria · ITUniversity of Turin · ITCarlo Forlanini Hospital · IT

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

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.

Indexed as

Anemia, Sickle Cellbeta-Globinsbeta-ThalassemiaDNA, MitochondrialFemaleFetal HemoglobinGenetic VariationGTP-Binding ProteinsHaplotypesHemoglobinopathiesHemoglobin, SickleHumansMaleNuclear ProteinsPilot ProjectsPolymorphism, Single NucleotideBCL11A protein, humanbeta-GlobinsDNA, MitochondrialFetal HemoglobinGTP-Binding ProteinsHBS1L protein, humanHemoglobin, SickleMYB protein, humanNuclear ProteinsProto-Oncogene Proteins c-mybRepressor Proteins

Identifiers

PMID33091040
PMCPMC7581000
OpenAlexW3094232477

What OpenQuestion holds

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Registered trials

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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.