Your Guide to Diamond Blackfan Anemia and Its Treatment

DBA is a condition in which the bone marrow is unable to produce enough red blood cells, resulting in a type of anemia. Anemia occurs when your body doesn’t have enough red blood cells to effectively transport oxygen to its tissues.

In about 45% of people with DBA, the mutation is inherited from a parent with DBA. The other 55% have no family history of the disorder and develop it due to a new (sporadic) gene mutation. The risk of passing the gene from an affected parent to a child is 50% for each pregnancy.

Sometimes environmental factors, such as exposure to toxins, may also play a role in the development of DBA. But, the exact causes of DBA aren’t fully understood, and more research is needed.

DBA can cause a variety of signs and symptoms, which can vary in severity from person to person.

Some common symptoms of DBA include:

• Pale skin: People with DBA often have skin that’s lighter in color than usual, due to a lack of red blood cells.
• Fatigue and weakness: The body doesn’t have enough red blood cells to carry oxygen to the body’s tissues, which can lead to feelings of fatigue and weakness.
• Delayed growth and development: Children with DBA may not grow or develop at the same rate as other children their age. About 1 in 3 people with DBA have slow growth/short stature.
• Congenital abnormalities: About half of people with DBA have physical abnormalities, such as a smaller head, small bottom jaw, low-set ears, and wide-set eyes.
• Heart problems: In rare cases, DBA can cause heart defects or other cardiovascular problems.
• Increased risk of infections: A lack of red blood cells can weaken the immune system, increasing the risk of infections.

Corticosteroids and red blood cell transfusions are the most commonly used treatments for DBA.

But research suggests that 40% of individuals with DBA are either poor responders to steroids or are steroid-resistant.

Additional evidence suggests that about half of people with DBA on steroid therapy eventually become nonresponsive to it over a prolonged period of time. These individuals will then require regular blood transfusions.

People who need regular blood transfusions (usually every 3–4 weeks) will also need iron chelation therapy. This treatment is necessary to remove the excess iron that builds up in the body due to transfusions.

Bone marrow transplant

In treatment-resistant people, a type of bone marrow transplant, known as a hematopoietic stem cell transplant (HSCT), may be recommended. This procedure involves replacing the defective bone marrow with healthy donor stem cells that can produce healthy red blood cells.

While HSCT can effectively treat DBA and restore normal blood cell production, it’s a complex procedure with risks, and it’s not appropriate for everyone with the condition. Even if the transplant is successful, there can still be long-term effects from the procedure. Close monitoring and follow-up care are necessary.

For instance, a study of 10 children with DBA who underwent HSCT demonstrates the risks involved.

Nine of the 10 children successfully received the new bone marrow and donor cells. But despite being given special medication, seven of the children developed acute graft-versus-host disease (GvHD), a complication that can occur when your immune system attacks your own tissues.

After a 4-year period, seven of the participants were disease-free, but two children died due to severe side effects of the treatments.

Because of this, the decision to pursue HSCT is only considered in certain people. It depends on several factors, including age, overall health, and disease severity, as well as the availability of suitable donors.

The cost and coverage of DBA treatments can vary depending on the specific treatment, the country in which you live, and your health insurance coverage.

Regular blood transfusions, which are a common treatment for DBA, may be covered by health insurance in many countries. The cost of transfusions can vary depending on the number and frequency of transfusions needed, as well as the type of blood product used.

Corticosteroids are generally less expensive than blood transfusions and may also be covered by insurance. Other medications used to treat DBA, such as immunosuppressants and iron chelation therapy, may also be covered by insurance, but the coverage and cost can vary widely.

Bone marrow transplants are a much more expensive and complex treatment option, ranging from tens of thousands to hundreds of thousands of dollars. Insurance coverage can also vary. Individuals may need to work with their insurance provider to determine coverage and out-of-pocket costs.

It’s important to note that many countries have government-sponsored healthcare programs that provide coverage for treatments for rare diseases like DBA. Also, some organizations and patient advocacy groups may offer financial assistance or resources to help cover the cost of DBA treatments.

Talk with a doctor if you need resources to pay for DBA treatments.

With current treatments, the overall survival of people with DBA, as reported by the DBA Registry, is 75.1% at age 40.

People with DBA are more vulnerable to developing life threatening medical conditions, such as cancer. By middle age, people with DBA have a 4.8-fold higher risk of developing cancer compared with the general population.

Still, others live long lives, and about 17% have maintained remission (as reported to the DBA Registry). Remission can happen after both steroid and/or transfusion therapies.

Diamond Blackfan anemia is a rare genetic disorder characterized by an inability to produce enough red blood cells. People with DBA can have pale skin, fatigue, physical abnormalities, and an increased risk of cancer.

DBA is typically treated with corticosteroids and blood transfusions. When these treatments don’t work, a bone marrow transplant may be needed.

While people with DBA are more vulnerable to developing cancer, many do live long lives, and some maintain complete remission.