Related Experiment Video

Updated: May 17, 2026

Measurement of Factor V Activity in Human Plasma Using a Microplate Coagulation Assay
13:08

Measurement of Factor V Activity in Human Plasma Using a Microplate Coagulation Assay

Published on: September 9, 2012

The rare inherited coagulation disorders

Paula H B Bolton-Maggs1

  • 1University of Manchester, Manchester Blood Centre, Plymouth Grove, Manchester, UK. paula.bolton-maggs@manchester.ac.uk

Pediatric Blood & Cancer
|October 31, 2012
PubMed

Insights

Rare inherited coagulation disorders (RICD) are uncommon, impacting both males and females differently than hemophilia. Management and severity vary, with Factor X and XIII deficiencies being most severe, and Factor XI least severe.

Area of Science:

  • Hematology
  • Genetics
  • Rare Diseases

Background:

  • Rare inherited coagulation disorders (RICD) are uncommon and poorly defined regarding severity and management.
  • Autosomal inheritance patterns are observed, with heterozygotes sometimes exhibiting mild symptoms.
  • Severe deficiencies are more prevalent in consanguineous populations.

Purpose of the Study:

  • To elucidate the characteristics of rare inherited coagulation disorders.
  • To define the spectrum of severity and management strategies for RICD.
  • To highlight differences in affected populations compared to hemophilia.

Main Methods:

  • Literature review of existing studies on RICD.
  • Analysis of inheritance patterns and clinical manifestations.
  • Comparison of severity across different factor deficiencies.

Main Results:

  • Factor X and Factor XIII deficiencies present with the most severe manifestations.
  • Factor XI deficiency is the least severe among RICD.
  • Factor VII and XI deficiencies exhibit a weak correlation between factor levels and bleeding risk.
  • Women are equally affected by RICD and may experience complications during menstruation and childbirth.

Conclusions:

  • RICD encompass a spectrum of bleeding risks and clinical presentations.
  • Understanding the specific factor deficiencies is crucial for appropriate management.
  • RICD affect women equally, necessitating consideration of gynecological and obstetric complications.

More Related Videos

Comprehensive Analysis of Procoagulant Platelets Exhibiting Features of Necrosis, Apoptosis and Platelet Activation04:37

Comprehensive Analysis of Procoagulant Platelets Exhibiting Features of Necrosis, Apoptosis and Platelet Activation

Published on: May 23, 2025

Related Concept Videos

Disorders of Hemostasis01:24

Disorders 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.
Anticoagulant Drugs: Low-Molecular-Weight Heparins01:30

Anticoagulant Drugs: Low-Molecular-Weight Heparins

Hemostasis is a crucial process that prevents excessive blood loss from damaged blood vessels. It involves various mechanisms such as vasoconstriction, platelet adhesion and activation, and fibrin formation. The importance of each mechanism depends on the type of vessel injury. In contrast, thrombosis is the abnormal formation of a blood clot within the blood vessels, leading to potential complications if the clot obstructs blood flow. Thrombosis can be caused by increased coagulability of the...
Extrinsic and Intrinsic Pathways of Hemostasis01:20

Extrinsic and Intrinsic Pathways of Hemostasis

Blood clotting or coagulation involves extrinsic and intrinsic pathways, which ultimately merge into the common pathway, forming a fibrin clot.
The Extrinsic Pathway
The extrinsic pathway of coagulation is typically initiated by tissue damage that exposes blood to tissue factor (TF), a protein released by the damaged tissue cells outside the blood vessels—this interaction with TF triggers biochemical reactions involving specific clotting factors. The key player here is Factor VII, which forms a...
Coagulation01:09

Coagulation

The coagulation phase is a critical part of the body's process to prevent blood loss following injury to blood vessels. It involves chemical reactions that form a clot to seal the injured area. The clotting process begins shortly after injury, within 15-20 seconds for severe damage and 1-2 minutes for minor injuries.
During the coagulation phase, clotting factors, or procoagulants, play a vital role in initiating and progressing the coagulation cascade. This cascade is a series of reactions...
Coagulation01:06

Coagulation

Colloidal solids are solid particles suspended in solution. They are usually negatively charged, attracting a compact primary layer of positively charged ions, which attract more counterions to form an electrical double layer. Electrostatic repulsion between the charged double layers prevents the particles from colliding, stabilizing the colloids. These solids are often undesirable because they can contain toxins that are difficult to remove. Coagulation is a technique that helps aggregate and...
Sex-linked Disorders01:43

Sex-linked Disorders

Like autosomes, sex chromosomes contain a variety of genes necessary for normal body function. When a mutation in one of these genes results in biological deficits, the disorder is considered sex-linked.