Genetic modifiers of sickle cell disease
Open accessAbstract
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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Al-Ali, A. K., Alsulaiman, A., Alzahrani, A. J., Obeid, O. T., Vatte, C. B., Cyrus, C., Alnafie, A. N., Alali, R. A., Alfarhan, M., Mozeleski, B., et al. (2020) · Hemoglobin · doi:10.1080/03630269.2020.1739068 · Cited by 20 · see citing works
Self-citation
- Authors
- Steinberg, M. H., & Sebastiani, P.
- Affiliations
- Boston University (US)
- Corresponding author
- Steinberg, Martin H.
- ORCID
- 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
- PMC
- PMC4562292
- OpenAlex
- W1999608172
- Semantic Scholar
- 211ed876e6cf2336f64a8b7f18f8439e3c563d07
- 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
- bronze
- doi.org
- 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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