Evidence map›Paper›PMID 26936084›Full record

ReviewExperimental biology and medicine (Maywood, N.J.)2016

Minireview: Genetic basis of heterogeneity and severity in sickle cell disease.

Alawi Habara, Martin H Steinberg

Abstract readReview
PubMed Full text at PMC Publisher
In one paragraph

Review in Experimental biology and medicine (Maywood, N.J.), 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 63 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
63citing papers in PubMed, 1 pooled it
–field-weighted citation impact
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

63 citing papers in PubMed, 1 synthesis or guideline pooled it.

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  20. Inheritance of Hb S and G6PD deficiency in a familiar group.Archives of medical science : AMS · 2024
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3 more citing papers are in PubMed but not listed here.

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

2 authors.

Alawi HabaraDepartment of Clinical Biochemistry, College of Medicine, University of Dammam, Dammam 31451, Kingdom of Saudi Arabia Department of Medicine, Boston University School of Medicine, Boston 02118, MA, USA.
Martin H SteinbergDepartment of Medicine, Boston University School of Medicine, Boston 02118, MA, USA mhsteinb@bu.edu.

Funding

Genetic Modulation of Sickle Cell DiseaseR01HL068970 · NHLBI · BOSTON UNIVERSITY MEDICAL CAMPUS · PI STEINBERG, MARTIN H. · 2001 to 2010
$7.0M
Genome-Wide Association Studies in Sickle Cell Anemia and in CentenariansR01HL087681 · NHLBI · BOSTON UNIVERSITY MEDICAL CAMPUS · PI STEINBERG, MARTIN H. · 2007 to 2010
$6.0M
Genetic Diversity of Sickle Cell AnemiaRC2HL101212 · NHLBI · BOSTON UNIVERSITY MEDICAL CAMPUS · PI STEINBERG, MARTIN H. · 2009 to 2010
$3.0M
NHLBI NIH HHS R01 HL068970NHLBI NIH HHS R01 HL087681NHLBI NIH HHS RC2 HL101212
6 · The paper itself

Abstract

Sickle cell disease, a common single gene disorder, has a complex pathophysiology that at its root is initiated by the polymerization of deoxy sickle hemoglobin. Sickle vasoocclusion and hemolytic anemia drive the development of disease complications. In this review, we focus on the genetic modifiers of disease heterogeneity. The phenotypic heterogeneity of disease is only partially explained by genetic variability of fetal hemoglobin gene expression and co-inheritance of α thalassemia. Given the complexity of pathophysiology, many different definitions of severity are possible complicating a full understanding of its genetic foundation. The pathophysiological complexity and the interlocking nature of the biological processes underpinning disease severity are becoming better understood. Nevertheless, useful genetic signatures of severity, regardless of how this is defined, are insufficiently developed to be used for treatment decisions and for counseling.

Indexed as

Anemia, Sickle CellFetal HemoglobinGenetic Association StudiesHumansSeverity of Illness IndexFetal Hemoglobingenome-wide association studygenotype–phenotype correlationhemolysisSeverity in sickle cell diseasesingle nucleotide polymorphismssubphenotypes of sickle cell disease

Identifiers

PMID26936084
PMCPMC4950383

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.