Qualitative disorders of platelets and megakaryocytes

  title={Qualitative disorders of platelets and megakaryocytes},
  author={Alan T Nurden},
  journal={Journal of Thrombosis and Haemostasis},
  • 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.



Ultrastructural analysis of megakaryocytes in GPV knockout mice.

GPV is not crucial to MK development and platelet production, consistent with the fact that no mutation in the GPV gene has as yet been described in BSS.

Inherited defects in platelet signaling mechanisms.

Evidence is now available that defects in platelet signaling mechanisms may be the basis for the platelet dysfunction in some of these patients, and evidence now exists for specific human platelet abnormalities at each of these levels.

Generation and rescue of a murine model of platelet dysfunction: the Bernard-Soulier syndrome.

An in vivo model is defined for analysis of the human GP Ib-IX-V receptor and its role in the processes performed exclusively by megakaryocytes and platelets, and a murine model recapitulating the hallmark characteristics of thehuman Bernard-Soulier syndrome is described.

Gene therapy for platelet disorders: studies with Glanzmann's thrombasthenia

Summary.  Current research aimed at correcting platelet defects are designed to further our knowledge in the use of hematopoietic stem cells for gene therapies of hemorrhagic disorders. Information

Severe deficiency of glycoprotein VI in a patient with gray platelet syndrome.

We report a novel case of gray platelet syndrome (GPS) where a severe deficiency of the platelet collagen receptor, glycoprotein (GP) VI, accompanies classical symptoms of a low platelet count and

Defective c‐Mpl signaling in the syndrome of thrombocytopenia with absent radii

Thrombocytopenia with absent radii (TAR) syndrome is a rare congenital defect with severe hypomegakaryocytic thrombocytopenia and bilateral radial aplasia. To elucidate a possible relationship

Pathologic interaction between megakaryocytes and polymorphonuclear leukocytes in myelofibrosis.

It is indicated that in idiopathic MF, abnormal P-selectin distribution in Mks induces selective sequestration of PMN cells, which results in a release of alpha-granular proteins and growth factors, which in turn induces fibroblast activation and fibrosis deposition.

Inherited thrombocytopenias: toward a molecular understanding of disorders of platelet production

Characterization of mutations in these disorders has contributed greatly to the authors' understanding of megakaryocyte and platelet development and a systematic registry of congenitally thrombocytopenic individuals would almost certainly lead to new genetic discoveries.

Autosomal dominant macrothrombocytopenia in Italy is most frequently a type of heterozygous Bernard-Soulier syndrome.

Evidence is provided that most patients with an original diagnosis of autosomal dominant macrothrombocytopenia shared clinical and molecular features with the heterozygous BSS phenotype, which means that the diagnosis of heterozygously altered Bernard-Soulier syndrome must always be suspected in patients with inherited thrombocytes and platelet macrocytosis.

c-mpl mutations are the cause of congenital amegakaryocytic thrombocytopenia.

A defective c-Mpl expression due to c-mpl mutations is proposed as the cause for thrombocytopenia and progression into pancy topenia seen in patients with CAMT.