Related Experiment Video
Updated: May 5, 2026
12:01
Detection of Disease-associated α-synuclein by Enhanced ELISA in the Brain of Transgenic Mice Overexpressing Human A53T Mutated α-synuclein
Published on: May 30, 2015
11.4K
Platelet dense granule defect: experience in the French population
Delphine Borgel1,2, Agathe Beauvais3, Cécile Bally4
1Institut National de la Santé Et de la Recherche Médicale Unité Mixte de Recherche-S1176, Le Kremlin-Bicêtre, France.
Research and Practice in Thrombosis and Haemostasis
|March 9, 2026
Summary
Platelet dense granule defect (DGD) is an inherited bleeding disorder. This study found DGD prevalence varies from 7.5% to 37.4% based on diagnostic criteria, highlighting the need for standardized testing.
Area of Science:
- Hematology
- Inherited bleeding disorders
- Platelet function
Background:
- Platelet dense granule defect (DGD) is a common inherited bleeding disorder.
- It is frequently underdiagnosed due to diagnostic complexity and lack of standardized tools.
Purpose of the Study:
- To determine the prevalence of DGD in a large French cohort.
- Focus on patients with abnormal bleeding scores but normal coagulation and von Willebrand factor.
Main Methods:
- Recruited patients with abnormal bleeding scores (ISTH-BAT) and normal coagulation.
- Utilized platelet function tests: aggregometry, electron microscopy, mepacrine assay, CD63 expression.
- Confirmed DGD through reproducible abnormalities across two visits.
Main Results:
- Prevalence of DGD ranged from 7.5% (≥2 abnormalities) to 37.4% (≥1 abnormality) based on criteria.
- No significant differences in age, sex, bleeding scores, or history between DGD and non-DGD groups.
Conclusions:
- DGD diagnosis is highly dependent on the criteria used.
- Standardized guidelines and repeated testing are crucial for accurate DGD diagnosis in clinical practice.
Related Concept Videos
02:45Blood Transfusion and Agglutination
13.1K
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...
13.1K
01:18Structure and Function of Platelets
7.2K
The cell fragments known as platelets are disc-shaped, with an average diameter of about 3 μm and a thickness of roughly 1 μm. They play a crucial role in the body's vascular clotting system, which also involves plasma proteins, blood cells, and blood vessel tissues.
Platelets are continually replenished, circulating in the bloodstream for 9-12 days before being removed by phagocytes, primarily in the spleen. A microliter of circulating blood contains between 150,000 and 450,000...
Platelets are continually replenished, circulating in the bloodstream for 9-12 days before being removed by phagocytes, primarily in the spleen. A microliter of circulating blood contains between 150,000 and 450,000...
7.2K
01:22Formation of the Platelet Plug
6.3K
The platelet phase, the second stage of hemostasis, commences around 15-20 seconds after an injury. It follows and overlaps with the vascular phase, during which blood vessels constrict to minimize blood loss.
As the injured blood vessel contracts, endothelial cells undergo contraction, revealing collagen fibers in the basement membrane and underlying connective tissue. Furthermore, the plasma membrane of endothelial cells becomes adhesive, preparing the site for platelet adhesion. Platelets...
As the injured blood vessel contracts, endothelial cells undergo contraction, revealing collagen fibers in the basement membrane and underlying connective tissue. Furthermore, the plasma membrane of endothelial cells becomes adhesive, preparing the site for platelet adhesion. Platelets...
6.3K
01:24Disorders of Hemostasis
2.7K
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.
2.7K
01:22Bone Marrow Sampling and Transplants
3.1K
Bone marrow transplant is a potential cure for several diseases, including cancer and specific genetic disorders. Notably, this procedure is applicable for patients suffering from aplastic anemia, certain types of leukemia, severe combined immunodeficiency disease (SCID), Hodgkin's disease, non-Hodgkin's lymphoma, multiple myeloma, thalassemia, sickle-cell disease, and certain cancers.
The transplant begins with high doses of chemotherapy and radiation treatment, which aim to destroy...
The transplant begins with high doses of chemotherapy and radiation treatment, which aim to destroy...
3.1K