Qualitative Platelet Disorder (Congenital Disorders Of Platelet Function)

Front 1

An inherited disorder of the platelet GP1b/IX/V complex characterized by; thrombocytopenia, giant platelets and failure of platelet to bind GP1b ligands.

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Bernard-Soulier Syndrome

Front 2

In 1948, they described 2 children from a consanguimnus family who had a severe bleeding disorder characterized by mucocutaneous hemorrhage.

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Bernard and Soulier

Front 3

In 1975, they identified an abnormality in platelet GP1b as the cause of the functional defect.

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Nurden and Caen

Front 4

Rare autosomal-recessive disorder of platelet function caused by absence or deficiency of the membrane GPIIb/IIIA complex.

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Glanzmanns thrombasthenia

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In glanzmann's thrombasthenia, it is the most common from mucosal surfaces;

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Bleeding

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In glanzmann's thrombasthenia, it is seen in infants associated with crying.

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Facial petechiae

Subconjugal hemorrhage

Front 7

An autosomal recessive disorder characterized by severe deficiency of dense granules.

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Hermansky-Pudlak syndrome

Front 8

In patients with hermansky-pudlak syndrome, the patients show?

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Albinism (Oculocutaneous)

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An autosomal recessive disorder, in which patients show albinism and giant lysosomal granules in neutrophils.

Storage pool defect in dense granules.

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Chediak-Higashi syndrome

Front 10

In chediak higashi syndrome, patients manifest?

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Thrombocytopenia

Enlarged liver and spleen

Partial oculocutaneous albinism

Front 11

An X-linked recessive disorder in which patients shows severe eczema, recurrent infections, immune defects, thrombocytopenia and small platelets.

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Wiskott-Aldrich syndrome

Front 12

It is a defect in the surface of glycoprotein sialophorin (CD43, GP115 and leukosialin)

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Wiskott-Aldrich syndrome

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Rare disorder is characterized by moderate to severe defects in both alpha and delta granules.

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Alpha delta storage pool defieciency

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In patients with alpha delta storage pool deficiency it is a point of distinction from other patients with the disorder and patients with gray platelet syndrome.

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Decreased platelet P-selectin

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Quebec platelet disorder is originally described as?

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Factor V Quebec