ITGA2B + ITGB3 mutation screen for Glanzmann Thrombasthenia
Description:
Analysis of the ITGA2B and ITGB3 genes by PCR amplification and sequencing of the coding region and splice junctions is the gold standard approach.
Clinical details:
Glanzmann Thrombasthenia is rare autosomal recessive platelet disorder, the result of defects in the ITGA2B or ITGB3 genes which code for the αIIb β3 receptor. The loss of fibrinogen and vWF binding results in a lack of platelet aggregation. Most patients have a normal platelet number and morphology.
Clinical severity can be variable although most cases are diagnosed soon after birth. Purpura, epistaxis, gingival bleeding and menorrhagia are common, with gastrointestinal bleeding, hematuria and potentially fatal hemorrhage less so.
Clinical severity can be variable although most cases are diagnosed soon after birth. Purpura, epistaxis, gingival bleeding and menorrhagia are common, with gastrointestinal bleeding, hematuria and potentially fatal hemorrhage less so.
Reference range:
n/a
Synonyms or keywords:
Glanzmann Thrombasthenia.
Glanzmann's disease.
Glanzmann-Naegeli syndrome.
ITGB2A
ITGB3
Thrombasthenia
Units:
n/a
Department:
Location:
Sample type and Volume required:
1 x Edta
Call in advance:
no
Turnaround time:
12 weeks
Storage and transport:
transport at ambient temperature
Contacts:
Molecular Haemostasis Laboratory at St Thomas'
020 7188 2798
Haemostasis and Thrombosis
North Wing - 4th floor
St Thomas' Hospital
Westminster Bridge Road
London SE1 7EH
Laboratory opening times
Monday - Friday 09.00 - 17.00
North Wing - 4th floor
St Thomas' Hospital
Westminster Bridge Road
London SE1 7EH
Laboratory opening times
Monday - Friday 09.00 - 17.00
Laboratory:
Last updated: 14/03/2017
