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anaemia and low retics >100 nmol/mg Hb/h >1% or adjusted for age negative

Presentation. Before first transfusion: FBC and reticulocytes eADA HPLC Serology for parvovirus, hepatitis B, hepatitis C and HIV. anaemia and low retics >100 nmol/mg Hb/h >1% or adjusted for age negative. Diagnosis: Bone marrow biopsy: aspirate and trephine

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anaemia and low retics >100 nmol/mg Hb/h >1% or adjusted for age negative

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

  2. 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

  3. 2 mg/kg alternate days wean alternate day over 8 weeks Response to steroids typical 1 mg every 6 weeks slow reduction over >6 months FerriScan under sedation prednisolone ≤0.5 mg/kg alternate days 5 to 10 years of age: MRI T2* Every 5 years: DEXA scan

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

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

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