Article
Diagnosis of inherited bleeding disorders in the genomic era.
British journal of haematology - 1 Nov 2017
Sivapalaratnam Suthesh, Collins Janine, Gomez Keith
Abstract excerpt
Inherited bleeding disorders affect between 1 in 1000 individuals for the most common disorder, von Willebrand Disease, to only 8 reported cases worldwide of alpha-2-antiplasmin deficiency. Those with an identifiable abnormality can be divided into disorders of coagulation factors (87%), platelet count and function (8%) and the fibrinolytic system (3%). Of the patients registered in the UK with a bleeding...
Topics
- Abnormalities, Multiple
- Blood Coagulation Disorders, Inherited
- Blood Platelet Disorders
- Diagnosis, Differential
- Genomics
- Genotype
- High-Throughput Nucleotide Sequencing
- Humans
- Incidental Findings
- Physical Examination
- Platelet Function Tests