Bleeding Disorders in Congenital Syndromes

Congenital bleeding disorders.

Both clinical and basic problems related to the congenital bleeding disorders continue to confront hematologists. On the forefront are efforts to bring genetic correction of the more common bleeding disorders such as hemophilia A to the clinic in a safe and accessible manner. A second issue, particularly for patients with hemophilia, is the development of inhibitors-questions of how they arise ...

Outcomes of Congenital Bleeding Disorders

Result: Thirty-one patients (48.4%) were diagnosed with hemophilia A,eighteen patients (28.1%) had von Willebrand disease, eleven patients (17.9%) had Hemophilia B and four patients had other factor deficiencies. Elevenpatients with Hemophilia A and one patient with Hemophilia B had severe disease. The prevalence of hepatitis C virus infection was 5%. All patients were negative for hepatitis B ...

Italian Registry of Congenital Bleeding Disorders

In Italy, the surveillance of people with bleeding disorders is based on the National Registry of Congenital Coagulopathies (NRCC) managed by the Italian National Institute of Health (Istituto Superiore di Sanità). The NRCC collects epidemiological and therapeutic data from the 54 Hemophilia Treatment Centers, members of the Italian Association of Hemophilia Centres (AICE). The number of people...

congenital myasthenic syndromes

congenital myasthenic syndromes (cms) are a group of diseases caused by genetic defects affecting neuromuscular transmission and are heterogeneous in inheritance and pathophysiology. these are classified as: 1. presynaptic defects: including choline acetyl transferase deficiency, paucity of synaptic vesicles, lambert-eaton like cms 2. synaptic defect: endplate ach esterase deficiency 3. postsyn...

Bleeding Disorders in Animals