DBAS Symptoms
Common symptoms of DBAS include:
Low haemoglobin, poor feeding, poor sleeping, not growing, fatigue (tiredness), shortness of breath, and headaches.
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.
Genetic Testing
It will take some time to receive the results from genetic tests, and treatment will most likely begin before the results are available. Still, not all genes are known, so some families may still not get a genetic cause. Parents can be negative for a gene and then pass on DBAS via sperm/eggs.
Diagnosis
DBAS is a rare blood disease, so careful explanation about its nature and prognosis is required. A child diagnosed with DBAS should be given the opportunity to be referred to a hospital that specialises in this rare blood disease. When a child is diagnosed with DBAS, a team of expert doctors, nurses and other healthcare professionals are required to oversee the child’s treatment and care and DBAS UK can support you with that if you are unsure.
Investigation of Immune System
Blood tests to investiage how your immune system are working.
What Should Happen
- Referral to a specialist centre with support from your local hospital
- Regular blood transfusions with chelation in the first instance
- Steroid trial
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
- Regular clinical reviews by haematology and other specialists, depending on individual needs.
Blood Transfusions
Blood transfusions for a minimum of 12 months of age before a steroid trial, as this will aid as much natural growth and development as possible.
Transfusion amount calculation:
- <250 ml/kg/year
- Transfusion intervals are, in most cases, 3-4 weekly
Steroids
- Trial of prednisolone 2 mg/kg for four weeks
- Wean alternate day over 8 weeks, 2mg/kg
alternate days, typical 1 mg every 6 weeks, slow reduction over >6 months, prednisolone
<0.5mg/kg alternate days - Return to transfusion if no response
2 Years Of Age:
- FerriScan under sedation
- Liver biopsy
- Bone marrow biopsy every five years
- DEXA scan
- MRI T2*
- Monitor film vitamin D
Bone Marrow Transplant From 2 Years Of Age
Bone marrow transplants are reserved for those who are not tolerating standard treatment options.
This requires further discussion with your doctor. Not everyone will be able to have a transplant. Bone Marrow transplant replaces the bone marrow with friendly marrow as with blood transfusions.
- Bone marrow biopsy if cytopenia yearly
- Bone marrow transplant
Health Management & Future Treatment
- 5 years bone marrow biopsy – yearly FerriScan
- Regular orthopaedic review and endocrine reviews from approx 10 years old
- Endocrinology review from 10 years of age until end of pubertal development
- Additional screening also includes cardiac review to assess presence of heart defects and an abdominal ultrasound to check for any kidney abnormalities.
Next Steps
If you have further questions about your DBAS diagnosis, we recommend:
- Speak to your Consultant or 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.