Definition

What is Diamond-Blackfan anemia?

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.

How common is Diamond-Blackfan anemia?

Diamond-Blackfan anemia affects approximately 5 to 7 per million liveborn infants worldwide. Please discuss with your doctor for further information.

Symptoms

What are the symptoms of Diamond-Blackfan anemia?

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.

There may be some symptoms not listed above. If you have any concerns about a symptom, please consult your doctor.

When should I see my doctor?

If you have any signs or symptoms listed above or have any questions, please consult with your doctor. Everyone’s body acts differently. It is always best to discuss with your doctor what is best for your situation.

Causes

What causes Diamond-Blackfan anemia?

Diamond-Blackfan anemia 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.

Risk factors

What increases my risk for Diamond-Blackfan anemia?

Please discuss with your doctor for further information.

Diagnosis & treatment

The information provided is not a substitute for any medical advice. ALWAYS consult with your doctor for more information.

How is Diamond-Blackfan anemia 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 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.

How is Diamond-Blackfan anemia treated?

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.

Lifestyle changes & home remedies

What are some lifestyle changes or home remedies that can help me manage Diamond-Blackfan anemia?

Please discuss with your doctor for further information.

If you have any questions, please consult with your doctor to better understand the best solution for you.

Hello Health Group does not provide medical advice, diagnosis or treatment.

Sources

Review Date: January 3, 2018 | Last Modified: January 3, 2018

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