Related Experiment Video
Updated: Jul 8, 2026
13:08
Measurement of Factor V Activity in Human Plasma Using a Microplate Coagulation Assay
Published on: September 9, 2012
Congenital hypofibrinogenemia
Neeraj Awasthy1, K C Aggarwal, H Gupta
1Department of Pediatrics, Vardhman Mahavir Medical College and Safdarjung Hospital, New Delhi 110 029, India.
Indian Pediatrics
|March 9, 2004
Summary
Congenital hypofibrinogenemia, an extremely rare bleeding disorder, was diagnosed in a 6-year-old girl. She experienced recurrent bruising without significant hemorrhage, highlighting a milder presentation of this condition.
Area of Science:
- Hematology
- Genetics
- Pediatrics
Background:
- Congenital afibrinogenemia/hypofibrinogenemia represents an extremely rare inherited coagulation disorder.
- This condition is characterized by a complete or near-complete absence of fibrinogen, a critical protein for blood clot formation.
Observation:
- A 6-year-old female child presented with a history of recurrent ecchymotic spots (bruising).
- Notably, the patient did not exhibit any episodes of frank or severe bleeding.
Findings:
- The case illustrates a presentation of congenital hypofibrinogenemia with predominantly bruising.
- This suggests a spectrum of clinical severity for this rare coagulation disorder.
Implications:
- This case expands the understanding of clinical manifestations in congenital hypofibrinogenemia.
- It underscores the importance of considering rare bleeding disorders in pediatric patients with unexplained bruising.
Related Concept Videos
01:15Transcytosis of IgG
Transcytosis is the process in which molecules are internalized by endocytosis, transported across the cell, and released through exocytosis from the opposite end of the cell. Molecules such as insulin, immunoglobulins, and certain nutrients are transferred through the recycling endosomes by recycling and transcytosis.
IgG molecules from a mother undergo transcytosis starting around 13 weeks of gestation. The amount of IgG transferred and entering the fetal blood circulation increases with...
IgG molecules from a mother undergo transcytosis starting around 13 weeks of gestation. The amount of IgG transferred and entering the fetal blood circulation increases with...
01:16Clot Retraction and Fibrinolysis
After a fibrin clot is formed, the next step is clot retraction, a vital process facilitated by platelet contractile proteins, such as actin and myosin. These proteins pull the fibrin strands closer together and condense the clot. This action reduces the size of the clot, creating a smaller, denser structure that effectively seals off the damaged vessel. Clot retraction consolidates the clot and helps with wound healing by bringing the edges of the damaged blood vessel closer together.
01:24Disorders of Hemostasis
Hemostasis, the process that stops bleeding after a blood vessel injury, is crucial for maintaining the integrity of the circulatory system. However, disorders of hemostasis can disrupt this delicate balance, leading to either excessive clotting or bleeding. These disorders can be broadly classified into thromboembolic disorders and bleeding disorders.
Thromboembolic Disorders
Two factors primarily cause thromboembolic conditions.
Thromboembolic Disorders
Two factors primarily cause thromboembolic conditions.
01:22Development of Immunocompetence
The initiation of cell-mediated immunity can be observed as early as the third month of fetal growth, with active antibody-mediated immunity following approximately one month later.
The initial cells that migrate from the fetal thymus settle within the skin and epithelial tissues lining the mouth, digestive tract, and in females, the uterus and vagina. These cells, including skin-based dendritic cells, serve as antigen-presenting cells, playing a key role in T cell activation.
Subsequent T...
The initial cells that migrate from the fetal thymus settle within the skin and epithelial tissues lining the mouth, digestive tract, and in females, the uterus and vagina. These cells, including skin-based dendritic cells, serve as antigen-presenting cells, playing a key role in T cell activation.
Subsequent T...
01:20Inborn Errors of Metabolism
Phenylketonuria (PKU) is a protein metabolism disorder characterized by high blood levels of the amino acid phenylalanine. This results from a mutation in the gene responsible for phenylalanine hydroxylase, an enzyme that converts phenylalanine into tyrosine. When this enzyme is deficient, phenylalanine builds up in the blood, leading to symptoms such as vomiting, rashes, seizures, growth deficiency, and severe mental retardation. An early diagnosis and a diet restricting phenylalanine intake...
01:25Jaundice
Jaundice, or icterus, is the yellow discoloration of the skin, sclerae, and mucous membranes. It happens when plasma bilirubin levels rise above 2.5-3 mg/dL, leading to bilirubin deposition in tissue.Bilirubin is a byproduct of hemoglobin degradation. In macrophages, hemoglobin breaks down into globin and heme. Globin is converted into amino acids, while heme is turned into biliverdin by heme oxygenase, which is then reduced to unconjugated bilirubin by biliverdin reductase.Unconjugated...