Fanconi Anemia Is a Rare Genetic Disorder That Requires Lifelong Care

Fanconi anemia (FA) is a rare but serious inherited disorder that affects approximately 1 in every 160,000 people. It can lead to bone marrow failure, developmental abnormalities, and a significantly higher risk of certain cancers. While it often presents in early childhood, its effects can last a lifetime and require continuous, specialized care.

Thanks to advances in genetic research and treatments like bone marrow transplants, many individuals with FA are now living longer, healthier lives than ever before.

What Is Fanconi Anemia?

Fanconi anemia is a genetic condition that interferes with the body’s ability to repair damaged DNA. As a result, it affects cells throughout the body, particularly those in the bone marrow the spongy tissue inside bones responsible for producing blood cells.

Over time, this leads to low blood cell counts, a condition known as aplastic anemia, which can cause:

• Fatigue

• Frequent infections

• Easy bruising or bleeding

More than 90% of people with FA eventually experience some degree of bone marrow failure.

Common Physical and Developmental Features

In addition to blood-related symptoms, about 75% of children with FA are born with visible physical abnormalities, which may include:

• Café au lait spots (light brown birthmarks)

• Short stature or low birth weight

• Missing, misshaped, or extra thumbs and fingers

• Underdeveloped or missing forearm bones

• Kidney or genital abnormalities

• Heart defects

• Hearing loss or small head size

• Curved spine (scoliosis)

Around 60% also experience developmental challenges, such as:

• Learning difficulties

• Delayed puberty or growth

• Poor appetite

Causes and Inheritance

Fanconi anemia is primarily an autosomal recessive condition, meaning a person must inherit two mutated copies of a related gene one from each parent to develop the disorder.

There are at least 18 genes linked to FA, with FANCA, FANCC, and FANCG accounting for up to 90% of known cases. FA is more common in certain populations, including:

• Ashkenazi Jews

• Black South Africans

• Roma (Gypsy) populations in Spain

Parents who are carriers typically show no symptoms but can pass the gene to their children.

How Fanconi Anemia Is Diagnosed

Diagnosis often begins with a physical exam and medical history, followed by genetic and blood testing. Key diagnostic tools include:

• Chromosomal breakage test: Detects DNA instability

• Complete blood count (CBC): Checks for low red or white blood cells and platelets

• Imaging tests (CT, MRI, ultrasound): Identify internal abnormalities in organs and bones

• EKG: Screens for heart defects

Early diagnosis allows for closer monitoring and proactive management of complications.

Treatment Options for Fanconi Anemia

There is no single cure for Fanconi anemia, but treatment has advanced dramatically and focuses on:

Short-Term Treatments:

• Regular blood tests and bone marrow monitoring

• Antibiotics for infections

• Blood transfusions to manage low cell counts

• Screening for cancers and tumors

Long-Term Treatments:

• Androgen therapy: Improves blood cell production in about 50% of patients

• Growth factors (like G-CSF): Boost specific blood cells, though less commonly used

• Hematopoietic stem cell transplant (HSCT): The only curative option for the blood-related complications of FA

• Surgical correction of congenital abnormalities

• Gene therapy and genetic counseling for families

Treatment requires input from a multidisciplinary team, including hematologists, surgeons, cardiologists, nephrologists, and more.

Living with Fanconi Anemia

Managing FA is a lifelong process. While the average life expectancy used to be just 20–30 years, improved treatments now allow many patients to live into their 30s, 40s, or even longer. Early detection and ongoing care are key to improving outcomes.

Long-term risks include the development of:

• Acute myeloid leukemia (AML)

• Myelodysplastic syndromes (MDS)

• Solid tumors, especially head, neck, and gynecologic cancers

Ongoing cancer screening and lifestyle choices such as avoiding smoking, alcohol, and other cancer risk factors are critical for long-term health.

How Families Can Prepare and Adapt

Living with FA means regular checkups, lifestyle adjustments, and often, emotional and social support. Parents and caregivers are encouraged to:

• Seek out genetic counseling

• Join support groups or FA-specific communities

• Help children develop healthy habits early

• Work with schools and specialists for developmental support

Thanks to new therapies and early interventions, families affected by FA have more options and support than ever before.

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