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Blood and immune system diseases

Diamond-Blackfan anemia (DBA)

An inherited disease in which the bone marrow cannot make enough red blood cells. Anemia usually begins in the first year. Some children have physical differences.

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, Italian). 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 tiny structures in cells that make proteins, called ribosomes, do not work well. The making of red blood cells in the bone marrow is affected most. White blood cells and platelets are usually normal.

Which symptoms can occur?

Anemia is usually noticed in the first year. There are also mild forms; in some people, anemia begins later. Severity can differ even within the same family.

  • Paleness, tiredness and weakness (common)
  • Differences in the face and head (physical differences in about half)
  • Cleft palate or cleft lip (sometimes)
  • Differences in the thumbs (sometimes)
  • Short stature (in about 1 in 3)
  • Differences in the structure of the kidneys or heart (sometimes)
  • A tendency toward leukemia and bone cancer

How is it diagnosed?

A blood count shows few red blood cells. A bone marrow examination may be done. The diagnosis is confirmed with a genetic test. Family members without symptoms may also be assessed.

Treatment and care

In the first year, regular blood transfusions are given. After the age of one, cortisone-type medicines improve blood counts in many people. In those who have frequent transfusions, iron that builds up is reduced with iron-removing treatment. For the blood cells, the only lasting solution is a stem cell (bone marrow) transplant. Regular checks for cancer are done. The doctor who follows the disease decides which treatment is suitable.

For the family: inheritance and genetic counselling

It is usually passed on through dominant inheritance. An affected parent has a 1 in 2 chance of passing it to each child. In more than half of people, the change is new; there is no one else affected in the family. Rarely, it is passed on in a recessive or X-linked way. Genetic counselling is recommended.

Source: MedlinePlus Genetics: Diamond-Blackfan anemia · GeneReviews: DBA Syndrome

Key facts

How is it inherited?
Autosomal dominant
When does it usually start?
Childhood, Infancy, Newborn period
Gene(s) involved
RPS19, RPS24, GATA1, RPS17, RPS7, RPL5

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 Diamond-Blackfan

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 4 active interventional studies for this disease. 3 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:124

No separate ICD-11 code; WHO classifies this disease under: 3A60.1

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.