Fanconi Anemia is disorder triggered by the reduced capacity of an individual’s body to refurbish DNA. The rare ailment is genetic and is brought about by mutations in 15 genes. It is often revealed before affected children reach 12 years, though, in some isolated cases, the symptoms manifest in maturity.
It is characterized by:
There is no cure for the majority of the symptoms associated the genetic disorder. It is an inherited disorder that results from the transmission of autosomal recessive gene mutations in the DNA of a patient. Though the disease occurs in any ethnic groups, the founder effect has led to the high occurrence of the disorder in the Ashkenazi Jewish population. The odd of the disorder affecting persons of this population are one in every 30,000 people while for other ethnic groups across the world is one in every 22,000 people.
This genetic condition is seldom detected at the birth of a person. Indicators such as blood count are numerously normal at that time. Signs that a person could be affected by the disorder start to show in the first decade of the life of such persons. Macrocytic anemia is often the initial indicator for Fanconi anemia. The universally accepted standard for determining presence or absence of the genetic disease is an estimation of chromosomal fractures brought about by cross-linking.
The inconsistencies and irregularities in the 17 genes associated with this disorder that is detectable via the Invitae Fanconi Anaemia test are passed on to offspring in autosomal recessive fashion.
Couples are advised to visit pre-conception prenatal counseling to get tested for the presence of the genes in their DNA. Such information is crucial in protecting unborn babies by reducing the chances of them inheriting the disorder.