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

Gene regulation and deregulation: a beta globin perspective.

P J Ho1, S L Thein

  • 1Institute of Haematology, Royal Prince Alfred Hospital, Camperdown, NSW Australia.

Blood Reviews
|September 30, 2000
PubMed
Summary

Beta thalassemia, a genetic blood disorder, arises from mutations in the beta globin gene. Understanding these gene mutations is key to comprehending the molecular basis of beta thalassemia.

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

Influence of Selective Carbon 1s Excitation on Auger-Meitner Decay in the ESCA Molecule.

The journal of physical chemistry letters·2024
Same author

Fitness criteria for Australian patients referred for chimeric antigen receptor T-cell therapy.

Internal medicine journal·2022
Same author

The haematology of Jamaicans: red cell indices in HbAA, HbAS, HbAC, and HbA-HPFH genotypes.

Journal of community genetics·2022
Same author

Resonant Inelastic X-Ray Scattering Reveals Hidden Local Transitions of the Aqueous OH Radical.

Physical review letters·2020
Same author

Observation of the fastest chemical processes in the radiolysis of water.

Science (New York, N.Y.)·2020
Same author

Risk of death from cardiovascular disease following breast cancer: a systematic review.

Breast cancer research and treatment·2017

Area of Science:

  • Genetics
  • Molecular Biology
  • Hematology

Background:

  • The beta globin gene is crucial for regulating gene expression.
  • Beta thalassemia results from impaired beta globin chain production.
  • Understanding gene regulation provides insight into molecular pathophysiology.

Purpose of the Study:

  • To review normal beta globin gene regulation and expression.
  • To explain how alterations lead to beta thalassemia.
  • To provide a basis for understanding the molecular pathophysiology of beta thalassemia.

Main Methods:

  • Review of existing literature on beta globin gene regulation.
  • Classification of beta thalassemia mutations (beta0 and B+).
  • Analysis of point mutations and deletions within the beta globin gene cluster.

Main Results:

  • Beta thalassemia is primarily caused by point mutations (single base substitutions).
  • Deletions within the beta globin cluster are a rarer cause.
  • Some cases involve mutations in trans-acting regulatory factors, independent of the beta globin complex.

Conclusions:

  • Mutations in the beta globin gene or its regulatory elements cause beta thalassemia.
  • Classification of mutations helps understand the severity of beta thalassemia.
  • Identification of trans-acting factors is crucial for a comprehensive understanding of beta thalassemia.

Related Experiment Videos