血小板密集颗粒缺陷:法国人口的经验
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
概括
血小板密集颗粒缺陷 (DGD) 是一种遗传性出血障碍. 这项研究发现,根据诊断标准,DGD的患病率从7.5%到37.4%不等,这凸显了对标准化测试的需要.
科学领域:
- 血液学 血液学 血液学
- 遗传性出血性疾病 遗传性出血性疾病
- 血小板功能 血小板功能
背景情况:
- 血小板密集颗粒缺陷 (DGD) 是一种常见的遗传性出血障碍.
- 由于诊断的复杂性和缺乏标准化工具,它经常被诊断不足.
研究的目的:
- 为了确定DGD在法国一大群体中的流行率.
- 专注于患有异常出血得分但凝血正常和·维勒布兰德因子的患者.
主要方法:
- 招募了具有异常出血分数 (ISTH-BAT) 和正常凝血的患者.
- 使用的血小板功能测试:聚合计,电子显微镜,美巴克林检测,CD63表达.
- 在两次访问中通过可重现的异常确认了DGD.
主要成果:
- 根据标准,DGD的患病率在7.5% (≥2个异常) 到37.4% (≥1个异常) 之间.
- 在DGD和非DGD组之间,年龄,性别,出血分数或病史没有显著差异.
结论:
- 诊断DGD高度依赖于使用的标准.
- 在临床实践中,标准化的指导方针和重复测试对于准确的DGD诊断至关重要.
相关概念视频
Blood 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
Structure 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
Formation 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
Disorders 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
Bone 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


