Is haemophilia A missense mutation?

Is haemophilia A missense mutation?

Missense mutations are the second most common cause of severe hemophilia A (HA)3 (http://www.eahad-db.org/; http://factorviii-db.org/) and the most frequent cause of the rare coagulation factor deficiencies,4,5 as well as of other human diseases, and are known to impair several properties of mutated proteins.

What is Type 3 von Willebrand disease?

Disease definition. A form of von Willebrand disease (VWD) characterized by a bleeding disorder associated with a total or near-total absence of Willebrand factor (VWF) in the plasma and cellular compartments, also leading to a profound deficiency of plasmatic factor VIII (FVIII).

What type of inheritance is von Willebrand disease?

Most cases of type 1 and type 2 von Willebrand disease are inherited in an autosomal dominant pattern , which means one copy of the altered gene in each cell is sufficient to cause the disorder.

Can von Willebrand disease skip a generations?

Most people who have von Willebrand disease (VWD) are born with it. VWD is caused by genetic changes that are almost always inherited (passed down) from a parent to a child.

What is Type 2 von Willebrand disease?

Disease definition. A form of von Willebrand disease (VWD) characterized by a bleeding disorder associated with a qualitative deficiency and functional anomalies of the Willebrand factor (VWF).

When is von Willebrand disease diagnosed?

Von Willebrand factor levels of 30 IU per dL or lower are required for the definite diagnosis of inherited von Willebrand disease. Persons with levels of 30 to 50 IU per dL may not have the disease, but may need agents to increase von Willebrand factor levels during invasive procedures or childbirth.

Does von Willebrand disease affect fertility?

No, not usually. Because the symptoms of VWD can be so easily managed, prenatal testing of the fetus is not recommended. However, if an older child has already been diagnosed with Type 3 VWD, parents may choose prenatal testing.