Diamond-Blackfan anemia is a rare blood disorder that is present from birth. It can cause symptoms of anemia, physical changes, and other health issues. Treatment may include blood transfusions, steroid therapy, and stem cell transplant.

Diamond-Blackfan anemia (DBA) is a blood disorder in which the bone marrow does not make enough red blood cells. It occurs due to a genetic mutation that people may develop or inherit.

DBA is a congenital disorder, which means it is present from birth. DBA is very rare, affecting 1 in 500,000 live births.

DBA can cause health issues and complications and may increase the risk of cancer. Treatment may result in positive outcomes, and a stem cell transplant is a potential cure.

This article looks at the symptoms, causes, diagnosis, treatment, and outlook for DBA.

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People with DBA have a moderate to severe lack of red blood cells. They may also have lower levels of white blood cells and platelets. This anemia can cause symptoms such as:

  • increased sleepiness
  • irritability
  • reduced appetite
  • weakness
  • paler skin
  • rapid heartbeat

Around 50% of people with DBA will have physical changes, such as:

  • smaller head size
  • flat nose
  • wide-set eyes
  • ears lower than usual
  • small lower jaw
  • small or recessed chin
  • cleft palate, and sometimes a cleft lip
  • thumb irregularities, such as a small thumb or a missing or extra thumb
  • shorter neck
  • prominent shoulder blades

Around one-third of people with DBA will have impaired growth, which can result in a shorter height than average.

DBA may also cause other health issues, including:

  • eye problems, such as cataracts or glaucoma
  • kidney abnormalities
  • heart defects
  • in males, the urethra may not reach the tip of the penis

DBA usually occurs due to a genetic mutation. A mutation affecting the RPS19 gene, a ribosomal protein gene, causes DBA in around 25% of cases, but researchers have also found genetic mutations in many other genes.

The most common way of inheriting DBA is in an autosomal dominant manner. This means people only need a single copy of a genetic mutation to inherit DBA.

People may inherit the genetic mutation from a parent, or it may occur as a genetic mutation in the person with DBA.

In 40–45% of cases, people with DBA inherit the genetic mutation from one parent who also has the genetic mutation. In the remaining cases, there is no family history of DBA, and the individual acquires the genetic mutation.

The risk of a parent with the genetic mutation passing it on to a child is 50% for each pregnancy. The risk for DBA is the same for males and females.

Preimplantation genetic testing may help people conceive a child without passing on a genetic mutation.

According to a 2020 article, DBA is present from birth, and doctors may diagnose the disorder at around 2–3 months.

In 95% of cases, doctors diagnose children before age 2 years. In 99% of cases, diagnosis happens before age 5 years. In some cases, a DBA diagnosis may occur at birth.

Doctors will assess clinical criteria to diagnose DBA, such as the age at which signs and symptoms begin and abnormalities in red blood cells.

They will then order different laboratory tests to confirm a diagnosis and rule out other conditions. This includes blood tests to measure:

  • Complete blood count (CBC): CBC shows the number of red blood cells, white blood cells, and platelets in the blood.
  • Reticulocyte count: This measures the number of immature red blood cells, or reticulocytes, to show how many red blood cells the bone marrow is producing.
  • Mean corpuscular volume: This measures the size of red blood cells, as an irregular size can indicate disease.
  • Erythrocyte adenosine deaminase (eADA) levels: Elevated levels of the eADA enzyme are common with DBA.

People may also have genetic testing to check for genetic mutations indicating DBA.

Sometimes, people have very mild signs and symptoms of DBA and may not require treatment.

For more severe symptoms, the first-line treatment for DBA is usually a red blood cell transfusion to treat anemia. Infants with DBA will usually have this treatment during the first year of life.

After the first year, people may then start a course of corticosteroids. This treatment usually improves red blood cell counts in around 80% of DBA cases.

If corticosteroids are ineffective, people will continue to have red blood cell transfusions. A person may need this treatment every 3–4 weeks and will also require iron chelation.

Iron chelators are medications that remove excess iron from the body, which can be a side effect of prolonged blood transfusions. Excess iron, or hemochromatosis, can cause severe damage to the body, which iron chelation helps to prevent.

The only cure for DBA is a bone marrow or stem cell transplant. Healthy stem cells from a donor replace damaged bone marrow. A donor may be a sibling without DBA or a donor who is not a relative.

Learn more about blood transfusions.

DBA may increase the risk of developing cancer, including:

Other possible complications of DBA include:

  • growth failure, which is a slower rate of growth and a shorter height than usual
  • infection
  • organ failure
  • iron overload

The outlook for people with DBA is relatively good but can depend on their response to treatment and any complications.

Complications of DBA may negatively affect quality of life or reduce life expectancy. Complications may include cancer development or treatment side effects.

Stem cell transplant has a high rate of success in people with DBA who are under 10 years old and have a donor with matching human leukocyte antigens (HLA), a type of protein within cells.

According to a 2018 review, data from the DBA Registry of North America (DBAR) shows existing treatments for DBA may result in an overall survival of 75% at 40 years of age, with a median overall survival of 58 years.

Survival rates for a stem cell transplant with a matched and related donor may be around 90% in young people with DBA who are otherwise healthy.

Learn more about rare blood disorders.

DBA is a rare blood disorder that occurs from birth. With DBA, the bone marrow does not create enough healthy red blood cells. This causes anemia, and people may also have physical changes.

DBA or treatment side effects may cause complications, and DBA can increase the risk of cancer.

Diagnosis usually happens before the age of 2 years. Treatment for DBA usually includes red blood cell transfusions and corticosteroid treatment.

A stem cell transplant may cure DBA and generally has a high success rate in young people who have a matched donor.