MEN (General Swiss-German Mennonite)

Inheritance: autosomal recessive
Genes: ITGA2B
ITGB3

Glanzmann thrombasthenia
GT
Platelet glycoprotein IIb-IIIa deficiency

Bleeding
Platelet aggregati
Blood clotting
Epistaxis
Purpura
Bruising

Thrombasthenia, Glanzmann

Clinical Characteristics

General description (for patients): 

Thrombasthenia is a disorder of blood that can lead to excessive bleeding.  It is often noted in early childhood through easy bruisibility and excessive nosebleeds.  The latter may be so persistent that blood transfusions are necessary.  Serious brain damage can occur from hemorrhage.

Medical description:  

This is a disorder of platelet aggregation resulting in prolonged bleeding times.  Platelet counts are normal but fail to adhere to each other properly with normal hemostasis.  Homozygotes (recessive disorder) suffer from easy bruising, excessive menstrual flows, mucosal bleeding, and frequent epistaxis, sometimes requiring repeated transfusions.  Heterozygotes may be considered mild bleeders.  Head trauma can lead to intracranial bleeding.

Genetics:

This is an autosomal recessive condition.  A mutation in the gene (ITGA2B or ITGB3) coding for platelet glycoprotein alpha-IIb leads to defective platelet adhesiveness.   A Mennonite family with a C>G substitution mutation in ITGA2B has been reported.

Treatment:

Complete correction of this disease with allogeneic bone-marrow transplantation has been reported.

Prognosis:

Excellent for most people although life threatening bleeding and anemia can occur.

Ancillary treatments and support:

Avoidance of trauma.

Specialists and specialty centers:

Hematologist, internist.

References:

Basani, R.B., French, D.L., Vilaire, G., Brown, D.L., Chen, R., Coller, B.S., Derrick, J.M., Gartner, T.K., Bennett, J.S., and Poncz, M.:  A naturally occurring mutation near the amino terminus of αIIb defines a new region involved in ligand binding to αIIbβ3.  Blood 95: 180-188, 2000.  PubMed ID: 10607701

Bellucci, S., Devergie, A., Gluckman, E., Tobelem, G., Lethielleux, P., Benbunan, M., Schaison, G., and Boiron, M.: Complete correction of Glanzmann’s thrombasthenia by allogeneic bone-marrow transplantation.  Brit. J. Haemat. 56: 635-641, 1985.  PubMed ID: 3885999

Resources:

Glanzmann thrombasthenia treatments

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