Related Experiment Video
Updated: Dec 17, 2025
11:42
Live-cell Imaging of Platelet Degranulation and Secretion Under Flow
Published on: July 10, 2017
12.0K
Diagnosis of rare bleeding disorders
Karina Meijer1, Waander van Heerde2,3, Keith Gomez4
1Division of Thrombosis and Haemostasis, Department of Haematology, University Medical Centre Groningen, University of Groningen, Groningen, The Netherlands.
Summary
Rare bleeding disorders are underdiagnosed globally. Genomic testing advances improve diagnosis and understanding of rare disease molecular pathology.
Area of Science:
- Genetics
- Hematology
- Molecular Pathology
Background:
- Rare bleeding disorders cause significant morbidity worldwide.
- Global underdiagnosis remains a major challenge in managing these conditions.
Purpose of the Study:
- To highlight advances in diagnostic tools for rare bleeding disorders.
- To underscore the impact of new technologies on identifying genetic causes and understanding disease mechanisms.
Main Methods:
- Review of advancements in genomic testing.
- Analysis of specialist laboratory assay capabilities.
- Integration of new diagnostic findings with molecular pathology.
Main Results:
- Genomic testing and laboratory assays have expanded the diagnostic capabilities for rare bleeding disorders.
- New genetic causes for rare diseases have been identified.
- Deeper insights into the molecular pathology of these disorders have been gained.
Conclusions:
- Modern diagnostic technologies are crucial for overcoming the underdiagnosis of rare bleeding disorders.
- Advances facilitate the discovery of novel genetic factors and enhance the understanding of disease mechanisms.
Related Concept Videos
01:24Disorders of Hemostasis
1.7K
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.
1.7K
01:28Esophageal Varices-II: Clinical Features and Management
282
Esophageal varices often manifest as gastrointestinal bleeding episodes, presenting symptoms like hematemesis (vomiting of blood), hematochezia (passing fresh blood via the rectum), and melena (black, tarry stools). Other signs can include weight loss, anorexia, abdominal discomfort, jaundice, pruritus, altered mental status, and muscle cramps.
In the initial assessment, a thorough review of the patient's medical history is vital to identify risk factors such as liver disease, alcohol...
In the initial assessment, a thorough review of the patient's medical history is vital to identify risk factors such as liver disease, alcohol...
282
01:27Disorders of Erythrocytes
1.9K
Disorders of erythrocytes, or red blood cells (RBCs), include a range of conditions affecting their number, shape, or function.
Erythrocyte disorders can be broadly categorized into two main types: anemic and polycythemic conditions.
A low oxygen-carrying capacity of the blood due to the loss, lower production, or destruction of erythrocytes is termed anemia. Hemorrhagic anemia, for example, occurs when bleeding from an external wound or internal ulcer reduces erythrocyte counts.
On the other...
Erythrocyte disorders can be broadly categorized into two main types: anemic and polycythemic conditions.
A low oxygen-carrying capacity of the blood due to the loss, lower production, or destruction of erythrocytes is termed anemia. Hemorrhagic anemia, for example, occurs when bleeding from an external wound or internal ulcer reduces erythrocyte counts.
On the other...
1.9K
01:30Venous Thrombosis IV: Nursing Management
140
Nursing management begins with a thorough assessment of the patient's health history. Key factors include trauma to veins, peripherally inserted central catheters, varicose veins, recent pregnancy or childbirth, surgery, bacteremia, prolonged bed rest, atrial fibrillation, COPD, heart failure, cancer, coagulation disorders, myocardial infarction, spinal cord injury, stroke, prolonged travel, recent bone fractures, and dehydration. Review medication intake, particularly oral contraceptives,...
140
02:45Blood Transfusion and Agglutination
13.9K
Blood transfusion is a therapeutic measure to restore the blood volume after extensive blood loss due to an accident or a medical procedure. Blood transfusion involves drawing a certain amount of blood from a suitable donor and infusing it into the recipient.
History
The history of blood transfusion dates back to the 17th century, when early attempts were made in animals. In 1818 James Blundell, a British doctor, performed the first successful human blood transfusion. Later in 1900, Karl...
History
The history of blood transfusion dates back to the 17th century, when early attempts were made in animals. In 1818 James Blundell, a British doctor, performed the first successful human blood transfusion. Later in 1900, Karl...
13.9K
01:29Pulmonary Embolism II: Diagnostic Studies and Interprofessional Care
165
Diagnosing Pulmonary EmbolismDiagnosing pulmonary embolism (PE) involves clinical assessment and advanced imaging tests. The preferred diagnostic tool is the spiral (helical) CT scan or CT angiography (CTA), which uses intravenous contrast media to visualize the pulmonary vasculature and identify emboli.A ventilation-perfusion (V/Q) scan is an alternative for patients unable to receive contrast media. This scan includes both perfusion and ventilation scanning. Perfusion scanning involves...
165