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

[Current trends in hemoglobin genetic diseases].

R Girot1

  • 1Centre de la Drépanocytose et de la Thalassémie, Hôpital Necker-Enfants Malades, Paris.

Nouvelle Revue Francaise D'Hematologie
|January 1, 1991
PubMed
Summary

This study identifies at-risk populations for sickle cell disease and thalassemia in France, estimating carrier numbers and patient prevalence. It also details the development of transgenic mouse models for studying hemoglobin disorders.

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

Factors predictive of leg-ulcer healing in sickle cell disease: a multicentre, prospective cohort study.

The British journal of dermatology·2016
Same author

Plasma therapy against infectious pathogens, as of yesterday, today and tomorrow.

Transfusion clinique et biologique : journal de la Societe francaise de transfusion sanguine·2016
Same author

Maternal mortality among women with sickle-cell disease in France, 1996-2009.

European journal of obstetrics, gynecology, and reproductive biology·2015
Same author

Facial lesions heralding the onset and relapse of eosinophilic fasciitis.

Clinical and experimental dermatology·2015
Same author

[The impact of screening sickle-cell carriers in the general population. A retrospective study in the Paris screening center].

Revue d'epidemiologie et de sante publique·2015
Same author

Comparison of CD63 Upregulation Induced by NSAIDs on Basophils and Monocytes in Patients with NSAID Hypersensitivity.

Journal of allergy·2011

Area of Science:

  • Hematology
  • Genetics
  • Epidemiology

Context:

  • Sickle cell disease and thalassemia prevalence and at-risk populations in France are not precisely defined.
  • Epidemiological studies are underway to delineate these populations and disease burden.
  • Current estimates suggest 250,000–350,000 heterozygotes and 100–150 new homozygotes annually in metropolitan France.

Purpose:

  • To estimate the scope of sickle cell disease and thalassemia in metropolitan France.
  • To describe the development and utility of transgenic mouse models for hemoglobinopathies.
  • To advance the understanding of hemoglobin disorders for potential therapeutic strategies.

Summary:

  • Identifies key at-risk regions in France for sickle cell disease and thalassemia, estimating significant carrier and patient populations.
  • Highlights the creation of transgenic mouse models expressing human fetal and adult hemoglobins.
  • Details the role of locus control region (LCR) in enhancing globin gene expression in these models.

Impact:

  • Provides crucial epidemiological data for public health planning and resource allocation for hemoglobinopathies in France.
  • Establishes valuable experimental tools for investigating the pathophysiology and developing therapies for sickle cell disease and thalassemia.
  • Advances research into human hemoglobin gene regulation and its therapeutic implications.

Related Experiment Videos