Diamond-Blackfan Anemia

What is Diamond-Blackfan anemia?

Diamond-Blackfan anemia (DBA) is a very rare blood disorder that affects people’s bone marrow, preventing bone marrow from producing enough red blood cells. People rely on red blood cells to carry oxygen throughout their bodies.

This type of anemia is a genetic disorder that happens when certain genes mutate, or change. Those genetic changes determine what kind of symptoms people have and whether those symptoms are mild or severe. That said, nearly everyone with Diamond-Blackfan anemia has anemia symptoms. They may have other conditions that affect their overall health and quality of life. As people with Diamond-Blackfan anemia grow older, they have an increased risk of developing certain kinds of cancer.

Diamond-Blackfan anemia is a chronic condition. People who have this condition will need lifelong medical care so their healthcare providers can treat the inherited condition, manage treatment side effects and monitor complications.

Is Diamond-Blackfan anemia common?

No, this is a rare condition. Each year, about 4 in 1 million children in the United States are born with Diamond-Blackfan anemia.

How does this condition affect people?

People rely on their red blood cells to carry oxygen throughout their bodies. Diamond-Blackfan anemia disrupts this process by creating abnormal stem cells that don’t become healthy red blood cells. Here is more information:

• About 90% of children born with this condition are diagnosed with anemia two or three months after they’re born.
• About 30% of children who have this condition are small for their age and don’t grow as quickly as other children.
• They may also have medical conditions that affect their appearance, vision, heart and kidneys.
• As they enter middle age (age 40 and older), between 2% and 5% of people with Diamond-Blackfan anemia develop certain blood cancers such as acute myeloid leukemia or conditions like colon cancer, cervical cancer or osteogenic sarcoma.

Some people have the condition without symptoms or with mild symptoms. Other people have severe symptoms that require immediate and ongoing medical care.

Is Diamond-Blackfan anemia a fatal illness?

Diamond-Blackfan anemia is a chronic illness that increases the chance people may develop life-threatening medical conditions. The DBA Registry of North America, a database with information about people who have this condition, shows 25% of people with DBA die by age 50 from related medical conditions. Starting in their 40s, people with this condition have an increased risk of developing cancer that could be life-threatening. If you have this condition, ask your healthcare provider what you may expect. They’ll have helpful insight about potential issues and information on how you may be able to reduce your cancer risk.

What causes Diamond-Blackfan anemia?

About 45% of people with this condition inherit mutated genes from a biological parent. Researchers aren’t sure what triggers genetic mutations in people who don’t inherit the condition from a biological parent. But researchers can link Diamond-Blackfan anemia to more than 20 genes called ribosome protein (RP) genes that cause Diamond-Blackfan anemia symptoms and at least four other genes that mutate and disrupt red blood cell production.

Researchers also link specific genetic mutations to specific conditions linked to Diamond-Blackfan anemia. For example, when RPL19 gene mutates, it causes immature red blood cells in your bone marrow to die earlier than normal. People who have a mutated RPL5 gene typically are shorter than their peers or more likely to have facial differences such as a cleft lip. Another example is the GATA1 gene, which plays a major role in red blood cell production. People whose GATA1 gene mutated are likely to have more severe anemia symptoms than people who have Diamond-Blackfan anemia but don’t have this genetic mutation.

I have Diamond-Blackfan anemia. Will my child inherit the condition?

If you have the condition, there’s a 50% chance your child will inherit it.

What are Diamond-Blackfan anemia symptoms?

This condition may affect different parts of your body, but the most common symptoms are anemia symptoms, including:

• Fatigue: This is feeling too tired and weak to manage your daily activities.
• Difficulty breathing (dyspnea): This is feeling short of breath.
• Pallor: This is when your skin is paler than usual.

Other common symptoms are:

• Delayed growth: Children with Diamond-Blackfan anemia may be smaller or shorter than other kids their age.
• Small heads (microcephaly): Healthcare providers may notice this symptom soon after children are born.

Less common symptoms include:

• Physical differences such as missing or misshapen thumbs.
• Heart conditions like atrial septal defect.
• Kidney conditions: Diamond-Blackfan anemia may cause horseshoe kidney.

How do healthcare providers diagnose Diamond-Blackfan anemia?

Healthcare providers may use several tests to diagnose this condition:

• Complete blood count (CBC): This test measures hemoglobin, the oxygen-carrying protein in red blood cells, the quantity and size of red blood cells and the quantity of white blood cells and platelets.
• Reticulocyte count:This test measures the immature red blood cells in your bone marrow. A low reticulocyte count may be a sign your bone marrow can’t produce enough healthy red blood cells to carry oxygen throughout your body.
• Bone marrow aspiration and biopsy: Healthcare providers may do these tests to obtain samples of bone marrow they can examine under a microscope, looking for signs of low red blood cell levels.

Is there a cure for Diamond-Blackfan anemia?

Allogeneic stem cell transplantations are the only known cure for Diamond-Blackfan anemia. In allogeneic stem cell transplantation, healthcare providers replace abnormal stem cells with healthy stem cells to boost red blood cell production. Healthcare providers typically turn to stem cell transplantations after other treatments haven’t solved the red blood cell shortage.

What are other treatments for this condition?

Healthcare providers may use the following treatments:

• Corticosteroids: This medication helps people’s bone marrow make more red blood cells.
• Blood transfusion:This treatment boosts red blood cell levels with donated red blood cells.

What are treatment complications or side effects?

Corticosteroid treatment and blood transfusions are typically very safe treatments but they may cause some side effects.

Corticosteroid side effects

People may develop the following issues if they need to take corticosteroids for a long time or need high doses to boost red blood cell production. Healthcare providers carefully monitor corticosteroid side effects, which may include:

• Osteoporosis (bone-weakening disease).
• Diabetes.
• High blood pressure.
• Increased appetite and weight gain.
• Lower resistance to infection.
• Ulcers.
• Cataracts or glaucoma.

Blood transfusion side effects

Some people may develop the following issues if they need multiple blood transfusions:

• Iron overload (hemochromatosis):Excess iron from multiple blood transfusions may damage your organs. Providers watch for iron overload with blood tests and imaging tests to look for signs of iron overload. They treat iron overload with chelation therapy to remove excess iron.
• Delayed transfusion reaction:This side effect happens when donated blood cells die soon after being placed in people’s bloodstreams.

When do providers begin treatment?

Healthcare providers typically begin blood transfusions immediately after diagnosing the condition, and usually before children are a year old. They may start corticosteroid treatment when children are a year old.

My baby needs treatment for Diamond-Blackfan anemia. What can I do to help them?

Babies and very young children may be frightened, anxious or upset when it comes time for treatment. That’s a natural reaction for someone who isn’t feeling well and may be afraid treatment will hurt. Here are some steps you can take that may help:

• Many times, children cope better with tests and treatments if they know what to expect. Ask your child’s healthcare provider for details about each test and treatment so you can explain the process to your child.
• Very young children want their parents nearby. Ask your healthcare provider about your child’s tests so you know when you can stay with your child and when you can’t.
• When you can stay with your child, plan ways to distract them during the procedure like reading a favorite book, telling a favorite story or helping them imagine a favorite activity. Sometimes, simply being there to hold their hand is all your child may need.
• When you can’t stay with your child, ask if they can have a favorite soft toy or blanket to hold during the test. It may help to tell your child that even if they can’t see, you’ll be right there during the test.

What healthcare providers treat Diamond-Blackfan anemia?

This condition affects people in many different ways. People who have this condition typically work with several different specialists:

• Primary care provider/pediatricians:Primary care providers and/or pediatricians track overall health and monitor for new signs or symptoms.
• Hematologists:These providers specialize in blood disorders like Diamond-Blackfan anemia. They work closely with primary care providers to diagnose and manage the condition.
• Oncologists:People with Diamond-Blackfan anemia have an increased risk of developing cancer. Oncologists are cancer specialists who will watch for changes that may be early cancer symptoms.
• Endocrinologists:These providers focus on your endocrine system, which is made of glands that release hormones that drive growth and development. Diamond-Blackfan anemia can affect growth.
• Nephrologist:Diamond-Blackman anemia can cause kidney problems. Nephrologists specialize in treating kidney conditions.
• Cardiologist: These providers are heart treatment specialists. They may treat iron overload symptoms or monitor your heart health. People with Diamond-Blackman anemia may develop enlarged hearts ( cardiomegaly)
• Ophthalmologist:Diamond-Blackman anemia may cause vision problems. Ophthalmologists are providers who specialize in diagnosing and treating eye disease.

How can I reduce my risk for developing this condition?

Diamond-Blackfan anemia is a genetic disorder that happens when certain genes mutate, or change. You can reduce your risk of passing the condition on to your biological children. If you have Diamond-Blackfan anemia, ask your healthcare provider about the chances you may pass the condition on to your children.

How long can you live with Diamond-Blackfan anemia?

Diamond-Blackfan anemia affects people in many different ways, making it difficult for healthcare providers to offer a prognosis. Some people who have this condition may have medical conditions with mild symptoms that don’t affect their lifespan. Other people may have more severe symptoms or serious conditions, such as severe anemia, heart or kidney issues that could be life-threatening.

How do I take care of myself/my child?

People with Diamond-Blackfan anemia will need medical support for the rest of their lives. That can be an overwhelming prospect if you have or your child has this condition. Here are some suggestions that may help:

• Manage your stress levels: You may need to balance regular medical treatments and side effects with daily work and family responsibilities. Consider activities like meditation or gentle exercise that let you take a breath and a break from your responsibilities.
• Encourage healthy habits: Most illnesses take a toll on people’s energy and appetites. Encourage family members to get their rest, develop healthy eating habits and get some exercise.
• Seek support: Diamond-Blackfan anemia is a very rare illness. Friends and family may empathize with your situation, but they can’t know what you’re going through. Ask your healthcare provider about support groups for people with this condition.