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