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

Beta S haplotypes in various world populations.

C Oner1, A J Dimovski, N F Olivieri

  • 1Department of Biochemistry and Molecular Biology, Medical College of Georgia, Augusta 30912-2100.

Human Genetics
|April 1, 1992
PubMed
Summary

This study identified beta S haplotypes in sickle cell disease patients globally. The findings confirm the independent origins of the beta S gene and suggest new haplotypes may influence disease severity.

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

Non-invasive brain stimulation of cerebellar and cortical targets: A systematic review and ALE meta-analysis of cognitive and connectivity outcomes in adults.

Neuroscience and biobehavioral reviews·2026
Same author

NIVOLUMAB ASSOCIATED ENDOCRINE ABNORMALITIES: CHALLENGING CASES FROM A REFERENCE CLINIC.

Acta endocrinologica (Bucharest, Romania : 2005)·2023
Same author

Risk factors for diabetic foot ulcers in metreleptin naïve patients with lipodystrophy.

Clinical diabetes and endocrinology·2021
Same author

Adult-onset still's disease, an unusual cause of severe acute liver injury: A case report.

Nigerian journal of clinical practice·2020
Same author

Inhibition of voltage‑gated potassium channels affect expressions of miR-126 and miR-126* in breast cancer cell lines.

Bratislavske lekarske listy·2020
Same author

The impact of sarcopenia on morbidity and long-term survival among patients with peritoneal metastases of colorectal origin treated with cytoreductive surgery and hyperthermic intraperitoneal chemotherapy: a 10-year longitudinal analysis of a single-center experience.

Techniques in coloproctology·2020

Area of Science:

  • Genetics
  • Hematology

Background:

  • Sickle cell disease (SCD) is a genetic blood disorder with varying clinical manifestations.
  • Understanding the genetic background, specifically beta S haplotypes, is crucial for predicting disease severity.

Purpose of the Study:

  • To determine beta S haplotypes in a large cohort of patients with sickle cell anemia, SC disease, and S-beta-thalassemia from diverse geographical origins.
  • To evaluate a novel, cost-effective, and rapid methodology for beta S haplotype analysis.

Main Methods:

  • DNA analysis using dot blot hybridization with labeled probes to detect promoter mutations in G gamma- and A gamma-globin genes.
  • High-performance liquid chromatography (HPLC) to identify the A gamma T chain, characteristic of the Cameroon (haplotype 17) variant.
  • Collection and comparison of hematological data from patients with different identified beta S haplotypes.

Related Experiment Videos

Main Results:

  • Beta S haplotypes were determined in 709 sickle cell anemia patients, 30 with SC disease, 91 with S-beta-thalassemia, and 322 Hb S heterozygotes.
  • The results corroborate previous findings that the beta S gene originated independently in multiple locations.
  • The study identified unusual beta S haplotypes, potentially linked to milder disease expression, and presented hematological data for various common haplotypes.

Conclusions:

  • The developed methodology is efficient and cost-effective for large-scale beta S haplotype determination.
  • Identifying specific beta S haplotypes can provide insights into the geographical origins of the mutation and potentially predict disease phenotypes.
  • Further research into unusual beta S haplotypes may reveal new therapeutic targets or prognostic markers for sickle cell disease.