Jove
Visualize
Contact Us
JoVE
x logofacebook logolinkedin logoyoutube logo
ABOUT JoVE
OverviewLeadershipBlogJoVE Help Center
AUTHORS
Publishing ProcessEditorial BoardScope & PoliciesPeer ReviewFAQSubmit
LIBRARIANS
TestimonialsSubscriptionsAccessResourcesLibrary Advisory BoardFAQ
RESEARCH
JoVE JournalMethods CollectionsJoVE Encyclopedia of ExperimentsArchive
EDUCATION
JoVE CoreJoVE BusinessJoVE Science EducationJoVE Lab ManualFaculty Resource CenterFaculty Site
Terms & Conditions of Use
Privacy Policy
Policies

Related Experiment Videos

Modifier genes and sickle cell anemia.

Martin H Steinberg1, Adeboye H Adewoye

  • 1Department of Medicine, Boston University School of Medicine and the Center of Excellence in Sickle Cell Disease, Boston Medical Center, Boston, Massachussetts 02118, USA. mhsteinb@bu.edu

Current Opinion in Hematology
|March 29, 2006
PubMed
Summary

Genetic polymorphisms influence sickle cell disease phenotypes. Single-nucleotide polymorphisms in genes related to inflammation, cell interaction, and growth factors are linked to varied disease subphenotypes, impacting clinical outcomes.

Related Concept Videos

You might also read

Related Articles

Articles linked to this work by shared authors, journal, and citation graph.

Sort by
Same author

Exa-cel in Children with Transfusion-Dependent β-Thalassemia or Sickle Cell Disease.

The New England journal of medicine·2026
Same author

Modeling Genetic Diversity in Sickle Cell Disease Reveals Heterogeneous Responses to HbF-Inducing Therapies.

bioRxiv : the preprint server for biology·2026
Same author

PGC-1α agonism via oral administration of ZLN005 induces fetal hemoglobin and is antisickling in sickle mice.

Blood advances·2026
Same author

One cell at a time: HbF distribution in sickle cell disease.

Blood advances·2026
Same author

One cell at a time: HbF distribution in sickle cell disease.

Blood advances·2026
Same author

Gene therapy for HbSC disease and other compound heterozygous sickle hemoglobinopathies: a time for inclusion.

Blood·2025

Area of Science:

  • Genetics
  • Genomic Medicine
  • Molecular Biology

Background:

  • The human genome project and HapMap have revealed genetic polymorphisms linked to disease.
  • Sickle cell disease (SCD) exhibits significant phenotypic heterogeneity.
  • Understanding genetic modifiers is crucial for SCD management.

Purpose of the Study:

  • To review genetic polymorphisms that offer insights into SCD pathophysiology.
  • To highlight genes modulating SCD phenotypes.
  • To explore the role of genetic variations in SCD subphenotypes.

Main Methods:

  • Review of case-control studies on single-nucleotide polymorphisms (SNPs) in candidate genes.
  • Analysis of genetic associations with SCD subphenotypes.
  • Integration of genomic data with clinical observations.

Related Experiment Videos

Main Results:

  • SCD phenotypes are modulated by polymorphisms in genes involved in inflammation, cell-cell interaction, and nitric oxide biology.
  • SNPs in transforming growth factor-beta/bone morphogenetic protein and Klotho genes are associated with several SCD subphenotypes.
  • Genetic variations contribute to the diverse clinical presentations of SCD.

Conclusions:

  • Genomic medicine is increasingly integrated into clinical practice.
  • Phenotypic heterogeneity in SCD, even with identical mutations, is explained by SNPs modulating disease phenotype.
  • Further research into epistatic factors will improve prediction and management of SCD complications.