• FBC: Hb usually 5 or normal (<10g/dL in 60%); normochromic normo-cytic indices; WBC 5, normal or 4 (rarely >100 x 109/L); platelets usually 5 or normal; occasionally 4.
• Blood film: leucoerythroblastic anaemia (nucleated red cells, myelocytes) with tear drop poikilocytes (96%) and polychromasia; giant platelets and megakaryocyte fragments.
• Bone marrow aspirate: usually unsuccessful ('dry tap').
• BM trephine biopsy: essential for diagnosis; characteristically shows patchy haemopoietic cellularity (often focally hypercellular) and variable reticulin fibrosis (often coarse and branching); 4 numbers of large irregular megakaryocytes; distended marrow sinusoids with intravascular haematopoiesis.
• Coagulation screen: features of DIC in 15%; usually occult but causes problems at surgery (e.g. splenectomy); defective platelet aggregation common.
• Cytogenetics: abnormalities in up to 75%: 13q- 20q- and 1q+ most frequent.
• Serum chemistry: bilirubin 4 in 40%; alkaline phosphatase and ALT 4 in 50%; urate 4 in 60%. 257
• MRI: readily distinguishes fibrotic BM from cellular BM.
Bone marrow trephine in myelofibrosis: note streaming effect caused by intense fibrosis
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