Qualitative disorders of platelets and megakaryocytes

@article{Nurden2005QualitativeDO,
  title={Qualitative disorders of platelets and megakaryocytes},
  author={Alan T Nurden},
  journal={Journal of Thrombosis and Haemostasis},
  year={2005},
  volume={3}
}
  • A. Nurden
  • Published 1 August 2005
  • Medicine, Biology
  • Journal of Thrombosis and Haemostasis
Summary.  Qualitative disorders of platelet function and production form a large group of rare diseases which cover a multitude of genetic defects that by and large have as a common symptom, excessive mucocutaneous bleeding. Glanzmann thrombasthenia, is enabling us to learn much about the pathophysiology of integrins and of how αIIbβ3 functions. Bernard–Soulier syndrome, an example of macrothrombocytopenia, combines the production of large platelets with a deficit or non‐functioning of the… 

Qualitative Platelet Disorders

  • L. Brace
  • Medicine, Biology
    American Society for Clinical Laboratory Science
  • 2007
Qualitative disorders in Bernard-Soulier syndrome, an autosomal recessive disorder in which the glycoprotein (GP) Ib/IX/V complex exhibits abnormal function, are summarized in Table 1.

Platelet function defects

In Inherited defects of platelet function are a heterogeneous group of disorders that can result in bleeding symptoms ranging from mild bruising to severe mucocutaneous haemorrhage and some therapies will have greater efficacy for one patient than another and should be individualized so as to provide optimal control of symptoms.

Congenital platelet disorders: overview of their mechanisms, diagnostic evaluation and treatment

The causes, diagnostic evaluation and therapies for common and rare congenital platelet disorders are reviewed, including menorrhagia, which is quite common in the general population.

Inherited traits affecting platelet function.

Proplatelet formation in heterozygous Bernard‐Soulier syndrome type Bolzano

The results suggest that a defect of platelet formation contributes to macrothrombocytopenia associated to the Bolzano mutation, and indicate a key role for GPIbα in proplatelet formation.

Inherited platelet disorders and oral health.

The management of patients with inherited platelet disorders in various clinical situations related to dental cares, including surgical intervention is discussed.

Bernard-Soulier syndrome (Hemorrhagiparous thrombocytic dystrophy)

  • F. Lanza
  • Medicine
    Orphanet journal of rare diseases
  • 2006
The prognosis is usually good with adequate supportive care but severe bleeding episodes can occur with menses, trauma and surgical procedures.
...

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