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What is DBA? Josu de la Fuente St Mary’s Hospital Imperial College London.

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Presentation on theme: "What is DBA? Josu de la Fuente St Mary’s Hospital Imperial College London."— Presentation transcript:

1 What is DBA? Josu de la Fuente St Mary’s Hospital Imperial College London

2 n = 75


4 Physical features Craniofacial features Cathie face High arched palate Cleft palate and lip Microcephaly Cardiac anomalies Ventricular septal defect Atrial septal defect Coarctation of the aorta Complex anomalies Urogenital anomalies Absent kidney Horseshoe kidney Hypospadias Growth Growth retardation Osteoporosis Feeding abnormalities Ophthalmological Congenital glaucoma Strabismus Congenital cataract Neck and spine Short neck Webbed neck Sprengel deformity Klippel-Feil deformity Scoliosis Hand thumb anomalies Hypoplastic thumbs Triphalyngeal Absent thumbs Thenar hypoplasia Development Learning difficulties Behavioural difficulties Hearing abnormalities Congenital deafness Middle ear abnormalities


6 Vlachos, 2012

7 Vlachos A et al. Blood 2012;119:3815-3819


9 3 patients had cardiac iron load (T2* <20 ms) in childhood, including 2 below the age of 6 years. 7 patients required intensification of chelation with continuous intravenous desferrioxamine, which was successful in all but one despite of the use of 50 mg/kg/day. 17 patients had severe hepatic iron load (LIC >10 mg/g DW, maximum 38.6 mg/g DW): 4 before initiation of chelation treatment 8 following chelation with desferrioxamine 5 following deferasirox treatment 7 of the patients had severe hepatic iron load (maximum 29.17 mg/g DW) despite of maintaining the ferritin <1500  g/L with adequate chelation treatment following guidelines for thalassaemia. Severe hepatic iron load was seen as early as in the second year of life (2 years 6 months LIC 38.6 mg/g DW).

10 n=37



13 anaemia and low retics >100 nmol/mg Hb/h >1% or adjusted for age negative absence or reduction beyond proerythroblasts negative Presentation Before first transfusion: FBC and reticulocytes eADA HPLC Serology for parvovirus, hepatitis B, hepatitis C and HIV Diagnosis: Bone marrow biopsy: aspirate and trephine cytogenetic analysis and FISH parvovirus PCR Mutation analysis Examine for skeletal abnormalities: palate, limbs, spine and scapula Testicles USS abdomen echocardiogramme hearing test ophthalmology review

14 Hepatitis B vaccine Transfusions minimum to 12 months Investigate immune system: lymphocyte subsets immunoglobulins Immunoglobulin subclasses responses to antibodies MMR Chickenpox vaccine trial of prednisolone 2 mg/kg for four weeks

15 Response to steroids wean alternate day over 8 weeks 2 mg/kg alternate days slow reduction over >6 months typical 1 mg every 6 weeks prednisolone ≤0.5 mg/kg alternate days FerriScan under sedation 5 to 10 years of age: MRI T2* Every 5 years: DEXA scan

16 Unresponsive to steroids wean over two weeks Transfusions: according to exercise tolerance and growth <250 mL/kg/year 2 years of age: FerriScan under sedation liver biopsy bone marrow biopsy Every five years: DEXA scan MRI T2* Sibling BMT

17 monitor film vitamin D bone marrow biopsy if cytopenia yearly endocrinology review from 10 years of age until end of pubertal development




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