Diamond Blackfan Anaemia
What is Diamond Blackfan Anaemia?
Diamond Blackfan Anaemia (DBA) is a rare blood disorder that occurs when the bone marrow fails to make enough red blood cells.
How common is DBA?
DBA is a rare condition that affects approximately five to seven children per million. It occurs equally in boys and girls and in all ethnic groups.
What is the prognosis of DBA?
DBA is a potentially life-threatening condition that can cause severe anaemia. Symptoms of DBA need to be managed by an experienced haematologist.
There is a risk that DBA can transform to leukaemia in some cases.
What causes DBA?
DBA is an inherited condition that affects the body’s genetic material involving ribosomal protein. In approximately 15% of children there is a fault with the specific protein gene called 'ribosomal protein S19' (RPS19). In rare cases in boys, the condition is due to a mutation in GATA1 (a class of genes that regulates one of the steps in red blood cell production).
What are the symptoms of DBA?
Symptoms of DBA vary between children depending on a variety of factors including genetic mutations. Symptoms often start in the first few months of life.
The most common symptoms of DBA are:
- pale skin
- low energy levels
- fatigue or tiredness
- difficulty breathing
- in babies, tiring during feeding
Approximately 40% children with DBA may have one or more of the following physical characteristics:
- short stature
- head, face and neck abnormalities
- thumb defects
- kidney or heart problems
- delayed puberty.
As DBA may resemble other medical conditions and blood disorders, it is important to consult your doctor and medical team if you have any questions or concerns.
How is DBA diagnosed?
DBA is usually diagnosed is the first year of life and usually before four months of age. DBA is diagnosed with a bone marrow biopsy and cytogenetic analysis of the cells to determine what genes are affected.
What is the treatment for DBA?
There are two common forms of treatment:
Steroid therapy: Approximately 70% of people diagnosed with DBA have steroid therapy which improves their anaemia. However, in some cases steroid therapy can stop working and the anaemia may return. Sometimes steroid therapy is used in combination with cyclosporin A. Those who respond to steroid treatment may remain on steroids for the rest of their lives.
Blood transfusions: For those who do not respond to steroid treatment, regular blood transfusions may be required. It is important to note that recipients of regular blood transfusions may be at risk of iron overload*. Iron overload occurs when there is a buildup of iron in the body as a result of blood transfusions. It is important to discuss this with your health care professional.
Is there a cure?
There are instances when some people may have a period of being symptom free or are even cured of DBA, but this is uncommon and difficult to predict. A bone marrow or stem cell transplant is the only known cure for DBA. Your doctor will discuss treatment options suitable to your particular situation with you and your family and gain your consent prior to beginning any treatment.
Diamond Blackfan Anaemia Charity UK: www.diamondblackfan.org.uk
Diamond Blackfan Anaemia Foundation: www.dbafoundation.org