1. Diamond Blackfan Anaemia Yvonne Harrington DBA conference 15 th November 2014

2. History of DBA In 1938 DBA was first recognised and was placed under an umbrella term of congenital hypoplastic anaemia Skeletal abnormalities were associated with DBA in 1961 In 1997 the ribosomal protein RPS19 was detected as a mutation associated with DBA and it was identified clinically in a proportion of patients 2009, a link to immune deficiency was suspected and data was collected from the cohort of patients reviewed at ICHT demonstrating reduced immunity is some patients. The data was presented at the International Consensus Conference in Atlanta In 2013 poor enamel formation leading to reduced dental health was identified and this is currently the focus of a research project A review is due to commence in 2015 to monitor the association with hypermobility syndrome in DBA

3. What is DBA? DBA is inherited in an autosomal dominant pattern; only 1 altered gene is necessary for DBA to occur… In less than half the cases the mutated gene is inherited from one of the parents. In the remaining cases the affected individual is the first to present within a family group DBA is a bone marrow failure syndrome characterised by diminished red blood cell production The bone marrow receives confused messages caused by missing ribosomal proteins Abnormal regulation of cell division and inappropriate triggering of cell death may cause the other abnormalities associated with DBA

4. Presentation of DBA o Classical presentation: o Infancy – lethargic/poor feeding/non weight gain/pale o Non classical presentation: o Pregnancy o Following the diagnosis of an affected child

5. Diagnosis Bone marrow aspiration will demonstrate diminished erythroid precursors, the cellularity may be normal. The other cell lines may be normal Results of blood tests which demonstrate anaemia and the bone marrow aspirate should be analysed along with the physical characteristics associated with DBA Elevated ADA levels Identification of a mutated gene Family history of anaemia and cancer below 50 years of age

6. Associated issues with DBA Facial abnormalities Bone abnormalities Cardiac & Renal abnormalities Cleft lip and/or palate Immune dysfunction behaviour

7. Treatment options Treatment is not always required, mild anaemia responds to iron supplements Steroids Blood transfusions Bone marrow transplant (risks/criteria) Spontaneous remission

8. Implications of diagnosis Parents & Siblings Other children Bone abnormalities Immune deficiency