Cited by 316Hemoglobinopathies and Related DisordersBlood groups and transfusionHemoglobin structure and function

Genetic modifiers of sickle cell disease

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Steinberg, Martin H., Sebastiani, Paola·2012·American Journal of Hematology

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. Am. J. Hematol. 2012. © 2012 Wiley Periodicals, Inc.

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  • High HbF is strongly associated with a reduced rate of acute painful episodes, fewer leg ulcers, and longevity.

    “High HbF is strongly associated with a reduced rate of acute painful episodes, fewer leg ulcers, and longevity.55”

    From Fetal hemoglobin in sickle cell anemia (2020) · cites this paper as [55]

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Research works printed but not linked: 3

  1. [1]Steinberg MHF,BG Higgs DR Weatherall DJ Disorders of Hemoglobin: Genetics, Pathophysiology, Clinical Management 2009 ambridge University Press Cambridge 2nd ed.
  2. [31]Nagel RL Embury SH Hebbel RP Mohandas N Steinberg MH Origins and Dispersion of the Sickle Gene. Sickle Cell Disease: Basic Principles and Clincal Practice 1994 353 80 Raven Press New York
  3. [123]Steinberg MH Predicting clinical severity in sickle cell anaemia. Br J Haematol 2005 129 465 81 15877729

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Authors
Steinberg, M. H., & Sebastiani, P.
Affiliations
Boston University (US)
Corresponding author
Steinberg, Martin H.
Venue
American Journal of Hematology
Publisher
Wiley
Published
2012-05-28
Volume
87
Issue
8
Pages
795-803
ISSN
  • 0361-8609 (ISSN-L)
  • 1096-8652
OpenAlex
W1999608172
Cited by
315
References
163
Citations by year
2026: 22 · 2025: 23 · 2024: 27 · 2023: 21 · 2022: 15 · 2021: 21 · 2020: 27 · 2019: 24 · 2018: 30 · 2017: 29 · 2016: 29 · 2015: 10 · 2014: 20 · 2013: 14 · 2012: 1
FWCI
1.86
Type
journal article
Language
en
Open access
Locations
  • American Journal of Hematology (publishedVersion)
  • PubMed (publishedVersion)
  • Europe PMC (PubMed Central) (acceptedVersion)
  • PubMed Central (acceptedVersion)
Funders
  • National Heart, Lung, and Blood Institute (R01 HL101212, P60HL015157, R01HL087681, U01 HL83771, R01HL068970, RC2HL101212, R21HL080463, U10HL083771, R01HL070735, T32HL007501)
  • National Institute of General Medical Sciences (T32GM074905)
Topics
  • Health Sciences › Medicine › Genetics › Hemoglobinopathies and Related Disorders
  • Health Sciences › Medicine › Hematology › Blood groups and transfusion
  • Life Sciences › Biochemistry, Genetics and Molecular Biology › Cell Biology › Hemoglobin structure and function
Keywords
sickle cell disease, genetic modifiers, fetal hemoglobin, alpha-thalassemia, genotype-phenotype correlation, clinical heterogeneity, disease subphenotypes, personalized treatment
MeSH terms
Anemia, Sickle Cell, Female, Fetal Hemoglobin, Humans, Male, Genome, Human, alpha-Thalassemia

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