Diamond-Blackfan Anemia

When you have anemia, your body doesn't make enough red blood cells, or the ones you do have aren’t working like they should. Red blood cells are key because they carry oxygen to your body. Without them, you can feel tired and short of breath.

Your red blood cells are made in the spongy tissue inside your bones called marrow. Diamond-Blackfan anemia, or DBA, is a type of anemia that’s caused when your bone marrow can't make enough red blood cells to meet your body’s needs.

What Causes Diamond-Blackfan Anemia?

Diamond-Blackfan anemia, also known as acquired pure red cell aplasia, is usually diagnosed when a child is less than a year old. It’s caused by changes, or mutations, in their genes, which are the building blocks of DNA. Sometimes the genetic mutation is passed down from one parent to a child. But sometimes the genes change on their own.

About half of DBA cases have a known genetic cause, but some people don’t know what causes their DBA.

Symptoms of DBA

People with DBA have many of the same symptoms as other types of anemia, including fatigue, pale skin, and weakness.

Some children born with DBA also have physical effects to their face and body, such as:

• A small head
• Wide eyes and a flat nose
• Small, low ears
• Small bottom jaw
• Short, webbed neck
• Small shoulder blades
• Abnormal thumbs
• Cleft palate or lip

Other symptoms of DBA can include kidney problems, heart defects, and eye problems such as cataracts and glaucoma. Boys can also have hypospadias, a defect that is there from birth, where the opening for their urinary tract isn’t at the tip of their penis.

How Is It Diagnosed?

Your doctor can use several tests to find out if your child has DBA, usually before age 1. Children with DBA have a low number of red blood cells, but normal white blood cells and platelets.

Your doctor will likely take a complete blood count, or CBC. It’s a blood test that looks at different parts of blood. This test measures several things, including:

• The number of red blood cells, white blood cells, and platelets
• A protein in red blood cells that carries oxygen, called hemoglobin
• The amount of space the red blood cells take up in blood, or hematocrit
• The size of the red blood cells

A few other blood tests your doctor can use to help diagnose DBA include:

Reticulocyte count. This test measures the number of young red blood cells. It can tell whether your child’s bone marrow is making enough red blood cells.

Erythrocyte adenosine deaminase (eADA) levels. About 80% of people with DBA have high levels of an enzyme called erythrocyte adenosine deaminase. This test measures the erythrocyte adenosine deaminase levels (eADA) in your child’s blood.

Fetal hemoglobin levels. Fetal hemoglobin is the type of hemoglobin babies have while in the womb. After birth, levels of this hemoglobin should drop. Many children with DBA still have high levels of fetal hemoglobin, even as they get older.

Bone marrow aspiration and biopsy. During this test, a small amount of cells and fluid are removed from the bone marrow with a needle. A technician looks at the samples to see how many red blood cells and other cells are in the marrow, and how healthy they are. Children with DBA will have fewer than normal healthy red blood cells in their bone marrow.

Genetic tests. These tests check for DBA genes, or genes for other types of anemia that are passed from parents to children.

What Are the Complications of DBA?

People with DBA are more likely to end up with certain diseases and conditions, including cancer of the blood and bone marrow (acute myeloid leukemia), bone cancer (osteosarcoma), and other disorders in which the bone marrow doesn't make enough healthy blood cells (myelodysplastic syndrome).

Treatments

Children diagnosed with DBA are able to live long lives with medical treatment. And some go into complete remission, meaning the symptoms disappear for a time.

Two common treatments are blood transfusion therapy and corticosteroid medication. Some people might also consider a bone marrow transplant, although it is riskier. And finding a matching donor is often difficult. You should discuss all options with your doctor.

Corticosteroid drugs. Medications like prednisone (Rayos, Sterapred) can help make bone marrow produce more red blood cells.

Blood transfusion. If steroid drugs don't work, or your child’s anemia becomes more severe, a blood transfusion is an option. Whole blood or red blood cells from a healthy donor can take the place of the blood cells your child’s body isn't making.

Bone marrow/stem cell transplant. This treatment replaces damaged bone marrow with healthy stem cells from a donor. It is the only cure for DBA.

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