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

Congenital afibrinogenemia

H al-Mondhiry1, W C Ehmann

  • 1Department of Medicine, Pennsylvania State University College of Medicine, Milton S. Hershey Medical Center 17033.

American Journal of Hematology
|August 1, 1994
PubMed
Summary

Congenital afibrinogenemia, a rare inherited bleeding disorder, presents with variable bleeding and spleen rupture risks. Diagnosis involves detecting low fibrinogen levels, with cryoprecipitate as a treatment.

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

Ocular findings in HIV-infected haemophiliacs.

Haemophilia : the official journal of the World Federation of Hemophilia·2016
Same author

PD-1(hi)TIM-3(+) T cells associate with and predict leukemia relapse in AML patients post allogeneic stem cell transplantation.

Blood cancer journal·2015
Same author

G-CSF mobilized vs conventional donor lymphocytes for therapy of relapse or incomplete engraftment after allogeneic hematopoietic transplantation.

Bone marrow transplantation·2012
Same author

Clofarabine and CY do not yield reliable engraftment of hematopoietic stem cells.

Bone marrow transplantation·2011
Same author

Fibrinogen interaction with human platelets: effect of other coagulation factors, prostaglandins and platelet inhibitors.

Thrombosis research·2010
Same author

Sirolimus in unmanipulated haploidentical cell transplantation.

Bone marrow transplantation·2008

Area of Science:

  • Hematology
  • Genetics
  • Rare Diseases

Background:

  • Congenital afibrinogenemia is a rare autosomal recessive disorder.
  • Characterized by absent or trace levels of fibrinogen, leading to bleeding diathesis.
  • Consanguinity is frequently observed in affected families.

Purpose of the Study:

  • To summarize the clinical manifestations, diagnosis, and management of congenital afibrinogenemia.
  • To highlight the genetic basis and diagnostic criteria for this rare coagulation disorder.
  • To discuss current and emerging treatment options for bleeding episodes.

Main Methods:

  • Review of existing literature on congenital afibrinogenemia.
  • Analysis of clinical case reports and genetic studies.
  • Synthesis of diagnostic approaches and therapeutic strategies.

Main Results:

  • Clinical spectrum ranges from mild bruising to severe hemorrhage.
  • Increased susceptibility to spontaneous splenic rupture is noted.
  • Coagulation tests show prolonged clotting times; platelet function abnormalities are common.
  • Diagnosis confirmed by absence of immunoreactive fibrinogen.
  • Genetic defect underlying fibrinogen synthesis remains largely unknown.

Conclusions:

  • Congenital afibrinogenemia requires prompt diagnosis and management due to potential life-threatening bleeding.
  • Cryoprecipitate is an effective treatment for bleeding episodes.
  • Fibrinogen concentrates offer a promising alternative, pending wider availability.

Related Experiment Videos