Causes and Risk Factors of Fanconi Anemia

Fanconi anemia (FA) is a rare genetic disorder. About 50% of cases are diagnosed before age 10, and an estimated 10% are diagnosed in adulthood.

The exact cause of FA is unknown, but research suggests the disorder has a strong genetic component.In people with FA, mutations in one or more genes involved in DNA repair lead to more frequent breaks and rearrangements of genetic material, also known as chromosome unstable.

The inability to repair damaged DNA leads to a range of birth abnormalities (birth defects), blood disorders and susceptibility to various cancers.

FA runs in families, so parents pass defective genes to their children. Fanconi anemia is found in both sexes, and there is no racial preference. However, specific FA subtypes may be more prevalent in certain ethnic groups, such as Ashkenazi Jews, Afrikaans, and Spanish Roma.

This article will discuss the causes and risk factors associated with Fanconi anemia.

Common causes

FA is primarily an autosomal recessive disorder, which means two mutations allele (Genes)—each biological parent has one—are required to cause disease. In most cases, if a child inherits only one allele from a parent, they may be a carrier (able to pass the gene on to their child), but usually do not experience symptoms.

In rare cases, FA can be inherited in an autosomal dominant pattern, which means that only one allele is required to cause the disease. This only happens when a specific gene mutation, such as RAD51, is passed on to offspring.

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genetics

In healthy cells, damage to DNA (genetic material) can be corrected, but not in FA. This condition is primarily caused by genetic defects that provide instructions to help the body repair specific types of DNA damage.

Defects in at least 16 genes are associated with the disease. 80% to 90% of genetic mutations occur in one of three genes involved in DNA repair: FANCA, FANCC, and FANCG.

Mutations in the following genes can also cause FA and are inherited in an autosomal recessive manner: BRCA2, BRIP1, FANCB, FANCD2, FANCE, FANCF, FANCI, ERCC4, FANCL, FANCM, PALB2, RAD51C, SLX4, and UBE2T. The FANCB gene causes less than 1% of all FA cases.

other risk factors

FA occurs in all racial and ethnic groups and affects men and women equally, but three groups exist – Ashkenazi Jews (from Eastern Europe), Afrikaans (South Africans of European descent), and Spanish Roma (also known as Gypsies) – more likely to have or be a carrier of FA.

FA is rare, with an estimated 1 in 181 people in North America and 1 in 93 people in Israel having or being a carrier of FA.

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However, the prevalence of the above three ethnic groups was higher. It is estimated that 1 in 89 Ashkenazi Jews and 83 Afrikaans carry the genetic variant of FA, about 1 in 32,000 people, compared with 160,000 in the general population.

The mutations most associated with each group are as follows:

  • Ashkenazi (FANCC, BRCA2/FANCD1)
  • Nordic (FANCC),
  • Afrikaans (FANCA) and Sub-Saharan Negroes (FANCG)
  • Spanish Roma (FANCA)

Lifestyle Risk Factors

Fanconi anemia (FA) is hereditary. Genetics is an unalterable factor in disease development. Still, there are lifestyle factors such as avoiding smoking, minimizing exposure to toxic chemicals and radiation, and adopting healthy habits that help reduce cancer risk and reduce FA complications.

The eventual development of bone marrow failure may make FA patients more susceptible to opportunistic infections and more susceptible to injury. Therefore, some lifestyle changes are also recommended. This includes avoiding any activity that could cause bruising and bleeding when platelet levels are low, and washing your hands frequently to prevent infection.

It is important to remember that FA is an incurable chronic disease with signs and symptoms that begin early in life. Therefore, it not only affects the body of the child, but also the psychology of the parent and the child.

Therefore, it can help all family members make modifications to improve their overall health. Ways to enhance physical and mental health may include:

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  • sleep seven to nine hours
  • manage stress
  • Exercise
  • maintain a healthy diet
  • drink enough fluids
  • eat healthy protein
  • Eat probiotics
  • Frequent contact with loved ones and trusted healthcare professionals

6 Active Lifestyle Factors That Promote Good Health

generalize

Fanconi anemia (FA) is a rare genetic disorder. In most cases, FA is autosomal recessive in nature, which means a person must receive two mutated genes—one from each biological parent—to develop the disease. At least 16 gene mutations are associated with FA. Three ethnic groups – Ashkenazi Jews, Afrikaans and Spanish Roma – were more likely to have or be carriers of FA.

VigorTip words

Although more has been learned about the genetic basis of FA over the past two decades, more research is needed to uncover all causal factors.

If you or a loved one has FA, you may want to consider participating in research. Choosing to participate in research is an important personal decision. If you are interested, discuss your decision to participate in the study with a trusted healthcare professional and family or friends. Many scientists believe that advancing research in this way offers society the best opportunity to treat FA and many other rare diseases.