Although scientists continue their research, the exact causes of leukemia have not been found. However, there are risk factors that are associated with the disease. A risk factor is something that increases the chance of developing a condition. For example, people who are exposed to cigarette smoke, those who are male, and those who are older have a higher risk of developing leukemia.

Only about 5 percent of leukemia cases are thought to involve inherited genes. Research has shown several genetic disorders that raise the risk of developing leukemia.

What Are Genetic Disorders?

A genetic disorder is a disease that develops due to a harmful mutation in the body’s DNA. DNA is the molecule that carries the instructions that explain how a person will look and how their cells will function. DNA mutations can make a single gene or many genes (a section of DNA) abnormal. These gene changes can be inherited (meaning the mutation came from a parent) or acquired (the mutation occurred at a later point in life).

Gene changes that lead to genetic disorders can also affect entire chromosomes — large DNA molecules that contain many genes. Humans have a total of 23 pairs of chromosomes. One of those pairs comes from the father (Y chromosome) and one pair is from the mother (X chromosome). Some genetic disorders occur when a person has too many or too few chromosomes.

Which Genetic Disorders Are Associated With Leukemia?

Several genetic disorders have been identified as raising the risk for different types of leukemia:

• Down syndrome
• Klinefelter syndrome
• Fanconi anemia
• Bloom syndrome
• Ataxia-telangiectasia
• Neurofibromatosis
• Family cancer syndrome

Down Syndrome

Down syndrome is a genetic disorder that is usually caused by the presence of three copies of chromosome 21 instead of the usual two copies. Children with Down syndrome have a greater risk of developing acute myeloid leukemia (AML) and acute lymphoblastic leukemia (ALL) than other children.

Klinefelter Syndrome

Klinefelter syndrome is a genetic condition in which a boy is born with an extra copy of the X chromosome. Males who have Klinefelter syndrome have a higher chance of developing ALL as well as other diseases such as breast cancer and non-Hodgkin lymphoma.

Fanconi Anemia

Fanconi anemia is a rare inherited disorder that is caused by one of 16 different gene mutations. Research shows that people with this disorder are at greater risk of developing AML.

Bloom Syndrome

When a person inherits mutations in the BLM gene, the result is an increased risk of several types of cancer including ALL and AML.

Ataxia-Telangiectasia

Ataxia-telangiectasia is a genetic disorder that affects the nervous and immune systems as well as increases the risk of developing certain types of cancer, particularly leukemia.

Neurofibromatosis

Neurofibromatosis is a group of inherited genetic disorders that can lead to the onset of several types of cancer, one of which is ALL.

Family Cancer Syndrome

When an abnormal gene is passed from generation to generation, it can lead to higher-than-normal risks for certain types of cancers. Also called hereditary cancer syndromes or inherited cancer syndromes, family cancer syndromes can lead to many cases of the same kind of cancer within a given family.

Examples of these diseases include hereditary breast and ovarian cancer as well as hereditary leukemia such as AML and myelodysplastic syndrome, a condition where the bone marrow produces too many immature cells and not enough healthy ones.

Li-Fraumeni syndrome is another family cancer syndrome that can lead to a higher risk of several types of cancer including leukemia. The disorder is most often caused by a mutation in the gene that helps stop the uncontrolled growth of abnormal cells.

Talk With Others Who Understand

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