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Can Genetic Disorders Put You at Risk for Leukemia?

Medically reviewed by Anna C. Edens Hurst, M.D., M.S. — Written by Maureen McNulty
Posted on May 19, 2021
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Most cases of leukemia develop on their own. They aren’t linked to any genes that are inherited. However, certain genetic disorders can be risk factors for leukemia. Genetic disorders are caused by inherited mutations, which are passed down from parent to child and are found in all of a person’s cells at birth.

Leukemia is a type of blood cancer in which blood stem cells develop abnormally and excessively in the bone marrow — the tissue inside of bones that makes new blood cells. Leukemia causes symptoms when abnormal white blood cells begin to crowd out healthy blood cells and spread.

Learning more about how genetic conditions are linked to different blood cancers like leukemia may help you better understand whether you or a family member has an increased risk.

Which Genetic Disorders Affect Leukemia Risk?

People with certain genetic conditions get leukemia at a higher rate than the general population. These genetic syndromes are present at birth and are caused by gene changes that are passed down from parent to child. Genetic disorders may be caused by a mutation (change) within a single gene, or they may develop due to abnormalities in a cell’s chromosomes (large pieces of DNA that contain a cell’s genes).

Following are several genetic conditions found to increase a person’s chances of developing leukemia.

Fanconi Anemia

Multiple different genetic mutations can cause Fanconi anemia, which is a rare blood disorder that stops bone marrow from producing sufficient blood cells. The mutations affect genes that are responsible for repairing damage within a cell. When these genes don’t work properly, a cell can turn cancerous. People with Fanconi anemia have a higher chance of developing multiple different cancer types, including acute myeloid leukemia (AML) and myelodysplastic syndrome (MDS).

Bloom Syndrome

Mutations in the BLM gene cause Bloom syndrome, a rare genetic condition. People with this condition are often short in height and have a red rash on the face. More than half of people with Bloom syndrome are diagnosed with cancer. About 1 in 3 of these cases of cancer is either leukemia or lymphoma.

Wiskott-Aldrich Syndrome

Wiskott-Aldrich syndrome leads to problems with the immune system as well as increased bleeding. This condition is caused by changes in the WAS gene. People with Wiskott-Aldrich syndrome are more likely to develop multiple different types of cancer and are often diagnosed with leukemia or lymphoma that develops from B cells, a type of blood cell.


Neurofibromatosis is caused by a mutation in the NF1 gene. People with this condition develop benign (noncancerous) tumors on the nerve cells. In some cases, neurofibromatosis can also cause different types of cancer. People with changes in the NF1 gene have a higher risk of developing AML, juvenile myelomonocytic leukemia (JMML), and acute lymphoblastic leukemia (ALL).


Ataxia-telangiectasia (A-T) is a condition that causes problems with the nerves. People with A-T may have a hard time walking or speaking. A-T leads to a 40 percent chance of developing cancer. Most of the cancers seen in people with A-T are blood cancers like leukemia and lymphoma.

Diamond-Blackfan Anemia

Diamond-Blackfan anemia (DBA) can be caused by mutations in more than 30 different genes. People with DBA have low levels of red blood cells. DBA is a risk factor for developing MDS and AML.

Shwachman Diamond Syndrome

Mutations in the SBDS gene cause Shwachman Diamond syndrome, a condition that affects many parts of the body, including the bone marrow. About 1 in 3 people with Shwachman-Diamond syndrome develop MDS or AML.

Severe Congenital Neutropenia

Severe congenital neutropenia (SCN), also called Kostmann syndrome, is a condition in which a person doesn’t have enough neutrophils (a type of white blood cell that helps fight infections). About 1 in 5 people with SCN develop blood cancers like MDS or AML.

Down Syndrome

Down syndrome is a genetic condition that causes intellectual disabilities and distinct physical features. It occurs when people have three copies of chromosome 21 instead of the usual two. Unlike many other genetic conditions, Down syndrome is typically not inherited and very rarely runs in families. Most people with Down syndrome do not have parents or other relatives with the condition.

People with Down syndrome are 10 to 20 times more likely to develop acute myeloid leukemia or acute lymphoblastic leukemia (ALL) than the general population. Additionally, people with Down syndrome are 500 times more likely to develop acute megakaryoblastic leukemia (AMKL), a type of AML.

Read more about the connection between Down syndrome and leukemia here.

Klinefelter Syndrome

Klinefelter syndrome affects the sex chromosomes. Whereas most people have two sex chromosomes that help determine their biological sex, people with Klinefelter syndrome have three or more sex chromosomes. Klinefelter syndrome doesn’t always cause signs and symptoms, and some people don’t realize they have this condition until they are adults.

Some research has shown that people with Klinefelter syndrome have a higher chance of developing AML, ALL, and MDS. However, other research has found that Klinefelter syndrome doesn’t increase leukemia risk. It’s not yet clear whether Klinefelter syndrome can make a leukemia diagnosis more likely.

Li-Fraumeni Syndrome

Sometimes, many members of the same family develop the same few types of cancer. This can be caused by a familial cancer syndrome, also known as a hereditary cancer syndrome. These conditions develop due to cancer-causing gene changes that are passed down within families. If one of these syndromes runs within a family, several different closely related family members will often develop cancer. Family members may also be diagnosed with cancer at a younger age than usual or develop multiple different types of cancer.

One familial cancer syndrome that can increase leukemia risk is Li-Fraumeni syndrome (LFS). LFS is usually caused by changes to the TP53 gene. Close to 1 in 2 people with LFS are diagnosed with cancer by the time they turn 30. LFS also raises a person’s risk of other cancers, including:

  • Bone cancer
  • Brain cancer
  • Breast cancer
  • Soft tissue sarcoma (tumor in supporting tissues such as muscle, tendons, fat, or blood vessels)

Other Hereditary Leukemia Syndromes

Researchers have recently discovered other hereditary syndromes that can increase leukemia risk. So far, experts think that there are around 12 of these conditions, although they are regularly finding more. Hereditary leukemia syndromes may also cause other problems with blood cells. For example, people who inherit a mutation in the RUNX1 gene from their parents have bleeding problems because of defective platelets (factors that clot blood). People with RUNX1 mutations have a 44 percent chance of developing MDS or AML.

How Do You Know If You Have a Genetic Disorder?

Genetic disorders are often diagnosed using gene testing. These tests can help a doctor see which genes a person inherited from their parents. Doctors may also use other tools to help diagnose a genetic condition, including:

  • A physical exam
  • Laboratory tests
  • Asking about a person’s medical history
  • Asking about the health of a person’s family members

In many cases, genetic syndromes are diagnosed after a person develops signs or symptoms. Other times, a person may be tested if a family member is diagnosed with a condition caused by gene changes. Genetic tests may help you learn more about your risk of developing leukemia. They can also help you understand whether you may pass down gene changes to any children you may have.

Genetic testing may be performed by your doctor or by a genetic counselor. A genetic counselor can help you better understand the benefits and the limits of genetic testing and explain what the results may mean. If you are interested in learning more about genetic testing for leukemia, talk to your health care team.

Genetic Testing for Acquired vs. Inherited Gene Changes

Usually, leukemia is caused by acquired mutations, which develop in a single cell over the course of a person’s life. Many people who are diagnosed with leukemia undergo testing to look for these cancer-causing gene mutations. This can help show which treatments may be best and predict a person’s outlook. These tests only look at the genes inside of leukemia cells. They don’t provide information about inherited genetic conditions or cancer risk.

Genetic disorders are caused by inherited mutations. Inherited mutations are passed down from parent to child and are found in all of a person’s cells at birth. Most people with leukemia never undergo genetic testing that looks at inherited genes. These tests are usually only recommended for people who have signs of a hereditary leukemia syndrome. For example, if a person has a family history of leukemia, their doctor may suggest this type of genetic testing.

Can You Change Your Risk of Developing Leukemia?

Leukemia can’t be prevented — you can’t change the genes that you were born with, and you can’t prevent new gene mutations from occurring. However, you can try to catch leukemia early. If you have a genetic syndrome that increases your leukemia risk, ask your doctor about any steps you can take. For example, you may be able to:

  • Get regular screenings to detect early signs of leukemia
  • Learn more about the signs and symptoms of leukemia so you have a better understanding of what to watch out for
  • Limit your exposure to other known risk factors of leukemia, including cigarette smoke, high levels of radiation, and chemicals like benzene and pesticides

For some people with a very high risk of developing cancer, regular doctor’s visits may be needed. For example, experts recommend that people with Li-Fraumeni syndrome undergo testing every four months. One useful test is a complete blood count (CBC), which measures the levels of different types of blood cells. Other possible tests include erythrocyte sedimentation rate to look for signs of inflammation or a lactate dehydrogenase (LDH) test to identify tissue damage. Finding leukemia when it is still at an early stage may lead to a better outlook.

Talk With Others Who Understand

MyLeukemiaTeam is the social network for people with leukemia and their loved ones. On MyLeukemiaTeam, more than 8,300 members come together to ask questions, give advice, and share their stories with others who understand life with leukemia.

Are you living with leukemia? Share your experiences in the comments below, or start a conversation by posting on your Activities page.

  1. Leukemia — Cleveland Clinic
  2. Risk Factors for Acute Myeloid Leukemia (AML) — American Cancer Society
  3. Fanconi Anemia and the Development of Leukemia — Best Practice & Research: Clinical Haematology
  4. Bloom Syndrome — National Organization for Rare Disorders
  5. Wiskott-Aldrich Syndrome — Immune Deficiency Foundation
  6. Neurofibromatosis Type 1 — Cancer.Net
  7. Leukemia-Associated NF1 Inactivation in Patients With Pediatric T-ALL and AML Lacking Evidence for Neurofibromatosis — Blood
  8. Ataxia-Telangiectasia — American Society of Clinical Oncology
  9. Diamond Blackfan Anemia (DBA) — St. Jude Children’s Research Hospital
  10. Shwachman Diamond Syndrome — National Organization for Rare Disorders
  11. Severe Congenital Neutropenia — MedlinePlus
  12. Origins of Leukaemia in Children With Down Syndrome — Nature Reviews Cancer
  13. Klinefelter Syndrome — Mayo Clinic
  14. Risk Factors for Acute Lymphocytic Leukemia (ALL) — American Cancer Society
  15. Hereditary Cancer Syndrome — National Cancer Institute
  16. Li-Fraumeni Syndrome — Cancer.Net
  17. Hereditary Leukemia Syndromes: What Patients and Their Families Should Know — MD Anderson Cancer Center
  18. RUNX1 Mutations in Inherited and Sporadic Leukemia — Frontiers in Cell and Developmental Biology
  19. How Are Genetic Conditions Diagnosed? — MedlinePlus
  20. Understanding Genetic Testing for Cancer — American Cancer Society
  21. Can Childhood Leukemia Be Prevented? — American Cancer Society
  22. Should I Get Genetic Testing for Cancer Risk? — American Cancer Society
  23. Risk Factors for Leukemia — Cancer Treatment Centers of America
Posted on May 19, 2021
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Anna C. Edens Hurst, M.D., M.S. specializes in general pediatrics as well as medical genetics. Review provided by VeriMed Healthcare Network. Learn more about her here.
Maureen McNulty studied molecular genetics and English at Ohio State University. Learn more about her here.

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