DBAS Symptoms
Common symptoms of DBAS include:
Low haemoglobin, fatigue (tiredness), shortness of breath, headaches.
Genetic screening following a clinical diagnosis in a child could
identify DBAS in other family members later than usual.
Blood Tests
Likely, the first type of test that a GP or consultant will request is a full blood count. This may show a low red blood cell count, and the MCV may be raised.
Bone Marrow Biopsy
In DBAS, the bone marrow contains fewer red blood cells than normal. The bone marrow sample is examined to rule out other blood-related diseases and monitor the overall amount of cells.
Genetic Testing
It may take some time to receive the results from genetic tests, and treatment may begin before the results are available, and some genes are still unknown.
Diagnosis
When diagnosed with DBAS, a team of healthcare professionals will manage your treatment. Options and key steps:
- Referral to a specialist centre
- Regular blood transfusions with chelation
- Steroid trial, if not done in childhood
DBAS is rare, so detailed explanations about its nature and prognosis are essential. Patients should have the option to be treated at specialised hospitals in addition to local hospitals, which can be arranged. Mental wellbeing for both the patient and their family and close friends is crucial, as treatments can be lengthy and may limit social interactions.
Investigation of Immune System
You will likely need further blood tests to investigate how your immune system is functioning. It is advised to have the Hepatitis B Vaccine.
Blood Transfusions
Blood Transfusions: For those with haemoglobin levels <90g/L who don’t respond to or can’t tolerate steroids. Adults typically need 2-4 units every 3-4 weeks.
Regular chelation (usually oral, sometimes subcutaneous or intravenous) is needed by adults who have received more than approximately 10 transfusions.
Treatment Options
Treatment options, including blood transfusions or oral steroids, will be decided between you and your doctor. Key steps:
- Referral to a specialist centre
- Regular blood transfusions with chelation
- Steroid trial, if not done in childhood
- Regular clinical reviews by haematology and other specialists, depending on individual needs.
Steroid Treatment
- Trial of prednisolone 80mg once a day for four weeks
- Wean slowly over 6 months to a dose of 5-15mg once a day on alternate days
- Return to transfusions if no response
- Will also need medication to protect against opportunistic infection and to protect the gut whilst on steroid doses >0.5mg/kg/day
Cancer Prevention
- Avoid smoking and keep a healthy weight
- Cervical screening national programme
- Breast screening national programme
- Self-examination of breasts
- Colonoscopy from age 18-20y every 5 years or more often if recommended by gastroenterology team
Health Management
- Clinical review every 3- 12 months
- Regular blood tests: every 6-12 months if treatment independent; every month if transfusion dependent; every 3-4 months if steroid-dependent
- 5-yearly bone marrow biopsy awake or with sedation
- 6-monthly to 2-yearly FerriScan and MRI T2* of heart if transfusion-dependent
- Regular endocrine reviews are advised if any endocrine issues
- Additional screening, if not done in childhood, also includes cardiac ultrasound to assess presence of heart defects and an abdominal ultrasound to check for any kidney abnormalities
- DEXA scan 1 to 2 yearly if on steroid treatment
- Annual eye check if on chelation or steroids, and annual ear check if on chelation
- Annual dental check-in for all DBAS patients
Bone Marrow Transplant
Reserved for adults with very low counts, early signs of blood cancer, or intolerance to standard treatments, only some people require discussion with your doctor as eligible.
Emerging treatments are advancing and offering new techniques that may be more accessible to you in the future.
Next Steps
If you have further questions about your DBAS diagnosis, we recommend:
- Speak to your Consultant, oe GP
- Contact DBAS UK with your questions; we will do our best to help.
- Call the DBAS UK Support Line on 0845 094 1548
Please Note: We are not medical professionals and will not give medical advice.