Diamond Blackfan anemia

We understand that you may have a lot of questions if your child has been diagnosed with Diamond Blackfan anemia.

• What exactly is it?
• What are potential complications in my child’s case?
• What are the treatments?
• What are possible side effects from treatment?
• How will it affect my child long term?

We’ve tried to provide some answers to those questions here, and when you meet with our experts, we can explain your child’s condition and treatment options fully.

What is Diamond Blackfan anemia? 

Diamond Blackfan anemia (DBA) is a rare blood disorder that occurs when the bone marrow fails to make red blood cells, which are essential for carrying oxygen from the lungs to all the other parts of the body.

How serious is it?

DBA is a potentially life-threatening condition that can causes severe anemia and other abnormalities. DBA requires ongoing medical care by experienced hematologists to help manage symptoms and keep your child as healthy as possible.

Is Diamond Blackfan anemia common?

Diamond Blackfan anemia is rare, affecting only five to seven children per million. It can occur equally in boys and girls, and has been diagnosed in nearly all ethnic groups.

Causes

What causes Diamond Blackfan anemia?

Diamond Blackfan anemia (DBA) is a genetic disease that affects the body’s ribosomes, which are small cellular structures that play an important role in the formation of proteins in the body. DBA has been linked to defects of at least eleven ribosomal protein genes. Mutations in one of these genes account for 40 to 45 percent of DBA cases. Unidentified genes still account for about half of all DBA cases.

DBA is usually a dominantly inherited disorder, meaning that one copy of the defective gene is enough to cause the disease. In some cases, children inherit the defective gene from a parent. However, new gene mutations can also cause the disease in children with no family history of the disorder.

Symptoms

What are the symptoms of Diamond Blackfan anemia?

The symptoms of Diamond Blackfan anemia can vary widely from child to child depending on the specific genetic mutation and other factors. Symptoms generally start by the time a baby is a few months old and almost always before the age of 1 year.

The most common symptoms of Diamond Blackfan anemia (DBA) are:

• pale skin
• decreased energy or tiredness
• difficulty breathing
• tiring during feeding in infants

About 40 percent of children with DBA also have one or more of the following physical characteristics:

• short stature
• head, face and neck abnormalities
• thumb defects

It’s important to understand that the symptoms of DBA may resemble other blood disorders or medical problems; some are very common and easy to treat, while others can  be more serious. The symptoms listed above are common presentations of the disease, but do not include all possible symptoms.

Your child may experience symptoms differently. Therefore, it is important to be evaluated by a physician to obtain an accurate diagnosis. Always consult your child's physician if you have concerns. 

Questions to ask your child’s doctor

You and your family are key players in your child’s medical care. It’s important that you share your observations and ideas with your child’s health care provider and that you understand your doctor’s recommendations.
 
If your child is suffering from Diamond Blackfan anemia, you probably have a lot on your mind. So it’s often helpful to write questions down. Some of the questions you may want to ask include:

• What does a diagnosis of Diamond Blackfan anemia mean for my child?
• How will my child’s symptoms be managed?
• What are the different types of treatment?
• Can my child receive a stem cell transplant?
• How long will my child need to be in the hospital?
• What are the possible short and long-term complications of treatment? How will they be addressed?
• What is the likelihood of cure?
• What services are available to help my child and my family cope?

FAQ

Q: What is Diamond Blackfan anemia?

A: Diamond Blackfan anemia (DBA) is a rare blood disorder that occurs when the bone marrow fails to make red blood cells, which are essential for carrying oxygen from the lungs to all the other parts of the body.

Q: What causes it?

A: Diamond Blackfan anemia (DBA) is a genetic disease that affects the body’s ribosomes, which are small cellular structures that play an important role in the formation of proteins in the body. DBA has been linked to defects of at least eleven ribosomal protein genes. Mutations in one of these genes account for 40 to 45 percent of DBA cases. Unidentified genes still account for about half of all DBA cases.

DBA is usually a dominantly inherited disorder, meaning that one copy of the defective gene is enough to cause the disease. In some cases, children inherit the defective gene from a parent. However, new gene mutations can also cause the disease in children with no family history of the disorder.

Q: Will my child be OK?

A: The symptoms of Diamond Blackfan anemia and how well children recover varies significantly depending on the specific genetic mutation your child has and other factors.In more severe cases, DBA can result in life-threatening anemia. Severe cases of DBA require lifelong treatment for anemia and other potential complications. Your child’s physician is available to answer questions about your child’s condition, prognosis and available treatment options.

Q: Is there a cure for Diamond Blackfan anemia?

A: Hematopoietic stem cell transplant can cure DBA when blood stem cells come from a matched sibling donor. However, a matched sibling donor isn’t available in many cases and an unrelated matched donor can be considered. Your child’s physician can tell you whether a stem cell transplant might be appropriate for your child.

Q: Where will my child be treated?

A: Children treated through the Fanconi Anemia and Bone Marrow Failure Multidisciplinary Clinic will receive outpatient care at Children’s Hospital Boston. If your child receives a hematopoietic stem cell transplant, he will see doctors at the Jimmy Fund Clinic at Dana Farber and will stay in Children’s specialized stem cell transplant unit.

Q: What services are available to help my child and my family cope?

A: We offer many services to help you, your child and your family get through this difficult time. Read more about our support services.