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Glanzmann's Thrombasthenia

Inheritance patterns and prenatal diagnosis

Inheritance patterns
Inheritance is autosomal recessive. It is equally common in males and females (unlike haemophilia (hemophilia - US)); carriers (the parents and some siblings of patients with GT) are unaffected and it is more common in children whose parents are related.

Prenatal diagnosis
The genes coding for IIb IIIa have been isolated and cloned. Many genetic mutations have already been described. This means that identification of affected pregnancies can be performed at an early stage, but that considerable planning is required and early medical consultation is necessary. Carriers can be identified by testing their platelets or by DNA testing.

View How is it treated? How is it treated?  |  Is there support? View Is there support?

Medical text (paediatric) written August 2001 by Dr R F Stevens, Consultant Haematologist/Oncologist, Royal Manchester Children's Hospital, Manchester, UK and (adult) November 2002 by Dr M Laffan. Last reviewed October 2005 by Dr M Laffan, Reader in Haemostasis and Thrombosis & Honorary Consultant in Haematology, Imperial College School of Medicine, London, UK.

 

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