Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

Thrombasthenia of Glanzmann and Naegeli

Glanzmann thrombasthenia is a rare autosomal recessive bleeding disorder as a result of platelet's inability to bind fibrinogen and form clots. This failure is caused by glycoprotein IIb-IIIa complex deficiency. Underlying mutations can be found in two distinct genes, ITGA2B and ITGB3.

Systematic

Inheritable platelet disorders
Alloimmune thrombocytopenia
Autoinflammatory periodic fever, immunodeficiency, and thrombocytopenia
Bernard-Soulier syndrome
Bleeding disorder platelet-type 9
Glycoprotein 1a deficiency
IVIC syndrome
MYH9 related disorders
Mediterranean macrothrombocytopenia
Thrombasthenia of Glanzmann and Naegeli
ITGA2B
ITGB3
Thrombocythemia 3
Wiskott–Aldrich syndrome

References:

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.

None (2005) Qualitative disorders of platelets and megakaryocytes.

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13.

None (2006) Glanzmann thrombasthenia.

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14.

OMIM.ORG article

Omim 273800 [^]
15.

Orphanet article

Orphanet ID 849 [^]
16.

Wikipedia article

Wikipedia EN (Glanzmann's_thrombasthenia) [^]
Update: April 29, 2019