Symptoms
Common symptoms of DBAS include Low haemoglobin, poor feeding, poor sleeping, not growing, fatigue (tiredness), shortness of breath, and headaches.
Blood Tests
It is likely that the first type of test that a GP or consultant will request is a full blood count, including a kidney and liver test. A blood test will show a low blood count across red blood cells, white blood cells, and platelets.
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.
Diagnosis
When a person is diagnosed with DBAS, a team of expert doctors, nurses and other healthcare professionals is established to oversee the person’s treatment and care. DBAS is a rare blood disease, so careful explanation about its nature and prognosis is required. A person diagnosed with DBA should be given the opportunity to be referred to a hospital that specialises in this rare blood disease. The mental wellbeing of the person diagnosed, and that of their family and close friends, is also of great importance. Treatments may take a long time and may mean reduced contact with family and friends for a while.
Investigation of the Immune System
It is likely that you will have to have further blood tests to investigate how your immune system is working. It is advised to have the Chickenpox Vaccine and the Hepatitis B Vaccine.
Transfusions: Minimum 12 Months of age
The purpose of this type of transfusion is to improve a person’s blood count.
Blood transfusions are kept to a minimum of 12 months with the aim of keeping the blood level at 100.
Treatment Options
Blood transfusions then a steroid trial and maybe a BMT, whichever treatment option works best for you will be a decision between you and your doctor:
- Referral to specialist central
- Regular blood transfusions with chelation
- Steroids
- Transplant
Transfusions
- According to exercise tolerance and growth
- <250 ml/kg/year
Steroid Treatment
- Trial of prednisolone 2 mg/kg for four weeks
- Wean alternate day over 8 weeks 2 mg/kg alternate days typical 1 mg every 6 weeks slow reduction over >6 months prednisolone ?0.5 mg/kg alternate days FerriScan under sedation 5 to 10 years of age: MRI T2*
- 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
This may be an appropriate treatment for you.
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 orthopedic review and endocrine reviews from approx 10 years old
- Endocrinology review from 10 years of age until the end of pubertal development
Next Steps
If you have further questions about your DBAS journey and what to expect, we can recommend:
- Speak to your Consultant, as well as the Doctors and Nurses on the ward who perform your transfusions
- 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.