Molekulargenetische Diagnostik
Praxis Dr. Mato Nagel

Glanzmann Thrombasthenie

Die Glanzmann-Thrombasthenie ist eine seltenes autosomal rezessives thrombozytäres Blutungsübel, welche aus der Unfähigkeit von Thrombozyten Fibrinogen zu binden und Aggregate zu bilden resultiert. Zugrunde liegt ein Defekt im Glycoproteinkomplex IIb-IIIa, welcher durch Mutationen in einem der Gene ITGA2B oder ITGB3 entstehen kann.

Gliederung

Hereditäre Thrombozytenerkrankungen
Alloimmun Thrombozytopenie
Bernard-Soulier-Syndrom
Glanzmann Thrombasthenie
ITGA2B
ITGB3
Glycoprotein 1a-Mangel
MYH9 assoziierte Erkrankungen
Mediterrane Makrothrombozytopenie
Thrombozytäres Blutungsübel Typ 9
Wiskott-Aldrich-Syndrom

Referenzen:

1.

Nair S et al. (2005) Mutations in GPIIIa molecule as a cause for Glanzmann thrombasthenia in Indian patients.

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2.

Kannan M et al. (2008) Carrier detection in Glanzmann thrombasthenia: comparison of flow cytometry and Western blot with respect to DNA mutation.

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3.

Newman PJ et al. (1991) The molecular genetic basis of Glanzmann thrombasthenia in the Iraqi-Jewish and Arab populations in Israel.

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4.

Kato A et al. (1992) Molecular basis for Glanzmann's thrombasthenia (GT) in a compound heterozygote with glycoprotein IIb gene: a proposal for the classification of GT based on the biosynthetic pathway of glycoprotein IIb-IIIa complex.

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5.

Burk CD et al. (1991) A deletion in the gene for glycoprotein IIb associated with Glanzmann's thrombasthenia.

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6.

Wilcox DA et al. (1994) A single amino acid substitution flanking the fourth calcium binding domain of alpha IIb prevents maturation of the alpha IIb beta 3 integrin complex.

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7.

Schlegel N et al. (1995) The molecular genetic basis of Glanzmann's thrombasthenia in a gypsy population in France: identification of a new mutation on the alpha IIb gene.

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8.

Poncz M et al. (1994) Glanzmann thrombasthenia secondary to a Gly273-->Asp mutation adjacent to the first calcium-binding domain of platelet glycoprotein IIb.

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9.

Basani RB et al. (1996) Glanzmann thrombasthenia due to a two amino acid deletion in the fourth calcium-binding domain of alpha IIb: demonstration of the importance of calcium-binding domains in the conformation of alpha IIb beta 3.

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10.

Grimaldi CM et al. (1998) Glycoprotein IIb Leu214Pro mutation produces glanzmann thrombasthenia with both quantitative and qualitative abnormalities in GPIIb/IIIa.

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11.

Ruan J et al. (1998) Double heterozygosity of the GPIIb gene in a Swiss patient with Glanzmann's thrombasthenia.

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12.

Nurden AT et al. (2005) Qualitative disorders of platelets and megakaryocytes.

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13.

Nurden AT et al. (2006) Glanzmann thrombasthenia.

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