Evidence map›Paper›PMID 22641398›Full record

ReviewAmerican journal of hematology2012

Genetic modifiers of sickle cell disease.

Martin H Steinberg, Paola Sebastiani

2 registry-linked trialsOpen access · bronzeAbstract readReview
In one paragraph

Review in American journal of hematology, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to 2 registered trials, which are not on this map. Cited by 143 papers, 13 of them syntheses that pooled it.

0numbers the graph read from it
0cells of the map it votes in
143citing papers in PubMed, 13 pooled it
6.8field-weighted citation impact, top 2% 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.

NCT03114137 unknown statusnot on this map

Heart, Arteries and Sikle Cell Disease, a Multicentric Cohort of Cardiovascular Complications in Subsaharan Africa

Typeobservational_patient_registrySponsorCardiologie et DéveloppementRan2012 to 2022Enrolled4,500ConditionsSickle Cell Anemia, Sickle Cell Disease
NCT06019208 unknown statusnot on this mapstarted 2021, after this paper: background citation

Genomics and Personalized Medicine for All Though Artificial Intelligence in Haematological Diseases

TypeobservationalSponsorHospital Universitari Vall d'Hebron Research InstituteRan2021 to 2024Enrolled1,000ConditionsSickle Cell Disorders
3 · Its place in the literature

Who cites it

143 citing papers in PubMed, 13 syntheses or guidelines pooled it, 297 citations in OpenAlex.

  1. Pooled it
  2. Pooled it
  3. Interventions for chronic kidney disease in people with sickle cell disease.The Cochrane database of systematic reviews · 2023
    Pooled it
  4. Pooled it
  5. Preoperative blood transfusions for sickle cell disease.The Cochrane database of systematic reviews · 2020
    Pooled it
  6. Pooled it
  7. Pooled it
  8. Interventions for chronic kidney disease in people with sickle cell disease.The Cochrane database of systematic reviews · 2017
    Pooled it
  9. Pooled it
  10. Pooled it
  11. Preoperative blood transfusions for sickle cell disease.The Cochrane database of systematic reviews · 2016
    Pooled it
  12. Pooled it
  13. Pooled it
  14. Trial
  15. Trial
  16. Trial
  17. Article
  18. Article
  19. Article
  20. Review

83 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 at 1 institution in 1 country.

Martin H SteinbergDivision of Hematology/Oncology, Department of Medicine, Boston University School of Medicine, Massachusetts 02118, USA. mhsteinb@bu.edu
Paola Sebastiani
Boston University · US

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
TREATMENT OF SICKLE CELL ANEMIAP60HL015157 · NHLBI · BOSTON MEDICAL CENTER · PI MCMAHON, LILLIAN E · 1985 to 2002
$5.4M
RESEARCH TRAINING IN BLOOD DISEASES AND RESOURCEST32HL007501 · NHLBI · BOSTON UNIVERSITY MEDICAL CAMPUS · PI LERNER, ADAM, STEINBERG, MARTIN H. · 1985 to 2018
$5.4M
Interdisciplinary Training for BiostatisticiansT32GM074905 · NIGMS · BOSTON UNIVERSITY MEDICAL CAMPUS · PI WHITE, LAURA FORSBERG · 2005 to 2019
$3.0M
Genetic Diversity of Sickle Cell AnemiaRC2HL101212 · NHLBI · BOSTON UNIVERSITY MEDICAL CAMPUS · PI STEINBERG, MARTIN H. · 2009 to 2010
$3.0M
Determinants of HbF Response to HydroxyureaR01HL070735 · NHLBI · BOSTON UNIVERSITY MEDICAL CAMPUS · PI STEINBERG, MARTIN H. · 2002 to 2005
$2.9M
Boston Sickle Cell Research ConsortiumU10HL083771 · NHLBI · BOSTON MEDICAL CENTER · PI MCMAHON, LILLIAN E · 2006 to 2008
$662k
Genetic Dissection of Sickle Cell Anemia PhenotypesR21HL080463 · NHLBI · BOSTON UNIVERSITY MEDICAL CAMPUS · PI SEBASTIANI, PAOLA · 2005 to 2006
$319k
NHLBI NIH HHS P60 HL015157NHLBI NIH HHS R01 HL068970NHLBI NIH HHS R01 HL070735NHLBI NIH HHS R01 HL087681NHLBI NIH HHS R01 HL101212NHLBI NIH HHS R01 HL70735NHLBI NIH HHS R01 HL87681NHLBI NIH HHS R21 HL080463NHLBI NIH HHS RC2 HL101212NHLBI NIH HHS T32 HL007501NHLBI NIH HHS U01 HL83771NHLBI NIH HHS U10 HL083771NIGMS NIH HHS T32 GM074905
6 · The paper itself

Abstract

Sickle cell anemia is associated with unusual clinical heterogeneity for a Mendelian disorder. Fetal hemoglobin concentration and coincident α thalassemia, both which directly affect the sickle erythrocyte, are the major modulators of the phenotype of disease. Understanding the genetics underlying the heritable subphenotypes of sickle cell anemia would be prognostically useful, could inform personalized therapeutics, and might help the discovery of new "druggable" pathophysiologic targets. Genotype-phenotype association studies have been used to identify novel genetic modifiers. In the future, whole genome sequencing with its promise of discovering hitherto unsuspected variants could add to our understanding of the genetic modifiers of this disease.

Indexed as

Genome, Humanalpha-ThalassemiaAnemia, Sickle CellFemaleFetal HemoglobinHumansMaleFetal Hemoglobin

Identifiers

PMID22641398
PMCPMC4562292
OpenAlexW1999608172

What OpenQuestion holds

Textmetadata
LicenceTDM
Read underepoch 390

Registered trials

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.