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Blood and immune system diseases

Fanconi anemia

An inherited disease in which the bone marrow, over time, cannot make enough blood cells. Some physical differences may be present from birth. The risk of certain cancers is higher.

Not part of the panel of Türkiye's National Newborn Screening Programme (heel-prick test). Source

Orphanet has a guideline for emergency doctors for this disease (language: French, Spanish). See on Orphanet

Prepare an emergency card

This page is translated from the Turkish original.

This disease is followed through the “Blood and immune system diseases” group.

Understanding the disease

This section has not yet been reviewed by a physician. It summarises patient information from sources such as MedlinePlus, Orphanet and the NHS in plain language. The disease can differ from person to person; talk to your doctor about diagnosis and treatment.

What happens in this disease?

The system that cells use to repair damage in DNA is faulty. Cells that divide quickly, especially in the bone marrow, are affected by this. Over time, the bone marrow cannot make enough blood cells. The risk of certain cancers is also higher.

Which symptoms can occur?

Bone marrow problems usually begin in the first 10 years of life. Physical differences are seen in about 3 in 4 people. Symptoms vary from person to person.

  • Tiredness and paleness (due to anemia)
  • Frequent infections
  • Easy bruising and bleeding
  • Short stature (common)
  • Light patches or coffee-with-milk-colored patches on the skin
  • Differences in the thumb or forearm
  • Differences in the structure of the kidneys, eyes or heart (sometimes)
  • A tendency toward leukemia and some solid tumors

How is it diagnosed?

A blood count and a bone marrow examination are done. A chromosome fragility test is done on blood cells. The diagnosis is confirmed with a genetic test. Testing brothers and sisters is also recommended.

Treatment and care

In bone marrow failure, the only lasting solution is a stem cell (bone marrow) transplant. Some hormone medicines and growth factors can improve blood counts for a while. Regular cancer screening is very important. Sun protection and the HPV vaccine are recommended. Research on gene therapy is ongoing. The doctor who follows the disease decides which treatment is suitable.

For the family: inheritance and genetic counselling

It is usually passed on through recessive inheritance. For a couple who are both carriers, the chance of having an affected child is 1 in 4 in each pregnancy. Diseases of this kind may be more common in marriages between relatives. Very rarely, it is X-linked or arises from a new dominant change. For some genes, being a carrier may increase the risk of breast cancer. Genetic counselling is recommended.

Source: MedlinePlus Genetics: Fanconi anemia · GeneReviews: Fanconi Anemia

Key facts

How common is it?
Prevalence: 1-9 per 1 000 000 (Europe)
When does it usually start?
Childhood
Gene(s) involved
RAD51, BRCA1, BRCA2, BRIP1, ERCC4, FANCA

These facts are taken from Orphanet and MedlinePlus records (last checked: October 7, 2026). Frequency values are approximate ranges.

You are not alone: patient associations in Türkiye

Non-profit patient and family organizations in Türkiye working on this disease or disease group. Links are for information; Doktorclub is not affiliated with these organizations and does not endorse them.

We could not find a patient association specific to this disease.

For all rare diseases: Nadir Hastalıklar Federasyonu

Support and help

Doktorclub does not diagnose, recommend treatments or refer you to hospitals or doctors. These pages are meant to help you talk with your doctor.

News about Fanconi anemia

Clinical trials (ClinicalTrials.gov)

A clinical trial is a regulated study that tests whether a new treatment is safe and whether it works, in patients who volunteer. Most trials look for a certain age, genetic change and health condition. Taking part is voluntary.

This list is not a treatment recommendation. Treatments tested in phase 1–3 trials are investigational (experimental): their efficacy and safety have not yet been proven and they are not approved treatments. Taking part depends on each trial’s criteria and a physician’s assessment; the first step is to talk to the doctor who manages your care.

Questions you can ask your doctor

  • Could this trial be suitable for us?
  • If we take part, how would current treatment and check-ups be affected?
  • Where does the trial take place, and how are travel and accommodation handled?
  • What happens if we want to leave the trial?

ClinicalTrials.gov lists 12 active interventional studies for this disease. 6 are recruiting now; none has a site in Türkiye. Last checked: October 7, 2026.

Selected records (studies with a site in Türkiye first):

See all studies on ClinicalTrials.gov · Joining clinical trials

Blood and immune system diseases: other news

Medical codes (for talking with your doctor and finding sources)

These codes identify the disease in international classifications and databases. They can help when you talk with your doctor or look for reliable sources.

Orphanet code: ORPHA:84

No separate ICD-11 code; WHO classifies this disease under: 3A70.0

Codes checked against WHO ICD-11 and Orphanet on October 7, 2026.

This page provides general information and does not replace diagnosis or treatment. Talk to your doctor about symptoms, diagnosis and treatment.

The information on these pages is for general information only and does not replace medical advice. Talk to your doctor about diagnosis and treatment decisions. In an emergency in Türkiye, call 112.

Every update is based on an open source and labeled with its level of evidence. No advertising and no drug brand names. Our scientific principles

This page was translated from Turkish by the Doktorclub editorial team.