Owren's Disease

My 1 yr old grandson has recently been diagnosed with the rare blood disorder, factor v defiency, Owren's disease. Wondering if anyone else knows or has this and can share some information with me. The whole family wants to be as educated as possible about the disease but there is not alot offered on the internet. To be able to be in contact with anyone else who shares this disease would be a great help to us all. thanks.

[Jordanna Joaquina, MS, CGC]

Factor V deficiency is bleeding disorder caused by mutations in the F5 gene. We all have two copies of the F5 gene - one from each parent. In this disorder, it is generally necessary to have two mutations, one in each gene copy, to be affected. This is called autosomal recessive inheritance.

Both parents of an affected person are obligate carriers (each have only one mutation). Two carriers have a 25% chance with each pregnancy to have an affected child.

As you already know, Factor V deficiency is a rare condition, affecting about 1 in a million people. The severity of symptoms varies among affected individuals. Common symptoms can include easy bruising, nose and mouth bleeds. More severe symptoms can include bleeding into joints and risks of head bleeds in newborns. More information on Factor V deficiency can be found at the National Hemophilia Foundation website.

We recommend that your family meet with a hematologist for evaluation. Your family may also benefit from meeting with a genetic professional to discuss inheritance and the benefits and limitations of genetic testing. A medical geneticist can be found at the American College of Medical Genetics website. A genetic counselor can be found at the National Society of Genetic Counselors website or though companies like mine, AccessDNA.