A while back, I began a series of short posts on genetic conditions that are most common in people with Ashkenazi Jewish heritage. Now it’s time to pick those back up again. Where were we? Fanconi Anemia.
Fanconi Anemia is a blood disorder characterized by deficiency of red blood cells, white blood cells and platelets. Fanconi Anemia (Type C) causes developmental delay, increased risk of cancer, and congenital birth defects.
1 in 89 people of Jewish ancestry are carriers of the gene alteration that causes Fanconi anemia.
Some children with Fanconi anemia have been successfully treated with bone marrow transplantation, but this treatment is still experimental.
There are five subtypes of Fanconi anemia. Only Type C occurs with increased frequency among people with Ashkenazi Jewish ancestry.
Genetic testing can tell whether you are an unaffected carrier of Fanconi anemia. Testing detects 95% of carriers for Fanconi anemia.
Fanconi anemia (Type C) is inherited in an autosomal recessive fashion, which means that in order for a child to be affected, he or she must inherit two copies of the gene change — one from each parent.
When two carriers have a child together, there is a 1 in 4 chance the child will have Fanconi anemia
Here is some additional information about the "genetics" of this condition that was written by our Genetic Counselor and other genetic professionals: http://www.accessdna.com/condition/Fanconi_Anemia/149. I hope it helps. Thanks, AccessDNA