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Fanconi anemia
Reviewed by Medicinsk Expert•Last updated: 2026-10-22•Condition

Fanconi anemia

Fanconi anemia is a rare genetic disorder characterized by bone marrow failure, physical abnormalities, organ defects, and a significantly increased risk of developing certain cancers.

Overview

Fanconi anemia is a condition that is characterized by bone marrow failure, physical differences, organ problems, and an increased risk of certain cancers.

Symptoms & Clinical Features

People with Fanconi anemia can experience a wide range of physical and physiological symptoms:

  • Bone Marrow Failure: Approximately 90 percent of people with Fanconi anemia have impaired bone marrow function, leading to a decrease in the production of all blood cells (pancytopenia). This causes extreme tiredness (fatigue) due to low red blood cells (anemia), frequent infections due to low white blood cells (neutropenia), and clotting problems due to low platelets (thrombocytopenia). Affected individuals may also develop myelodysplastic syndrome, where immature blood cells fail to develop normally.
  • Growth and Skin Issues: Growth problems before or after birth often result in short stature. Affected individuals can have irregular skin coloring, such as unusually light-colored skin (hypopigmentation) or flat patches on the skin that are darker than the surrounding area.
  • Skeletal Problems: These often include malformed thumbs or forearms, or an unusually small head size (microcephaly).
  • Endocrine Issues: Problems in hormone-producing tissues are common, including abnormally low levels of thyroid hormones (hypothyroidism) and high blood glucose levels (hyperglycemia).
  • Organ and Sensory Defects: Affected individuals can have eye abnormalities (such as small or abnormally shaped eyes), malformed or absent kidneys, gastrointestinal abnormalities, heart defects, brain abnormalities, and hearing loss.
  • Reproductive System Issues: Abnormal genitalia or malformations of the reproductive system can occur, which can result in difficulty having biological children (infertility).
  • Increased Cancer Risk: Individuals have a 10 to 30 percent likelihood of developing a cancer of blood-forming cells called acute myeloid leukemia (AML), as well as tumors of the liver, gastrointestinal system, genital tract, or head and neck (known as head and neck squamous cell carcinoma).

Frequency

Fanconi anemia occurs in 1 in 100,000 to 160,000 individuals worldwide. The condition is

Frequently Asked Questions

Sudden severe fatigue, shortness of breath, or dizziness (possible severe anemia); high fever > 38.5 °C, chills, or rapid breathing (possible infection from neutropenia); unexplained bruising, petechiae, or bleeding from gums or nose (critical thrombocytopenia); or new severe abdominal pain (possible splenic rupture). Call your doctor immediately or go to the emergency department.
Many males have azoospermia and many females have ovarian insufficiency, but some retain reproductive potential. Early referral to a reproductive endocrinologist is advised. Options include sperm banking before puberty, assisted reproductive technologies (IVF with pre‑implantation genetic testing), and use of donor gametes. Pregnancy carries higher risk of marrow failure and should be managed jointly by a hematologist and maternal‑fetal medicine specialist.
Because the risk of acute myeloid leukemia, head‑and‑neck squamous cell carcinoma, and gynecologic cancers is markedly increased, screening begins early: CBC and bone‑marrow review every 3–6 months; annual oral examination with biopsy of suspicious lesions; pelvic exam and HPV testing for females starting at age 15; and colonoscopy beginning at age 30 (or earlier if family history). Low‑dose whole‑body MRI may be considered for early solid‑tumor detection in research settings.
Complete blood count with differential is checked every 3–6 months in stable patients; if counts drop or symptoms appear, testing may be done monthly. Bone‑marrow aspirate/biopsy is performed when pancytopenia worsens or before a hematopoietic stem‑cell transplant.
Source: MedlinePlus, National Library of Medicine

MedlinePlus brings together authoritative health information from the National Library of Medicine (NLM), the National Institutes of Health (NIH), and other government agencies and health-related organizations.

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