X-linked recessive condition, deficiency of factor VIII, prevalence 1 in 10,000 Range of possible mutations, 30% of cases due to sporadic mutation Low factor VIII levels predispose to bleeding – risk proportional to factor...

X-linked recessive condition, deficiency of factor IX Severely affected patients develop haemarthroses Inhibitors (factor IX antibodies) less common Recombinant factor IX – 18 hour half life so daily dosing to maintain levels Prophylactic treatment...

Introduction Can be divided into two types; Hodgkin’s and non-Hodgkin’s. Lymphoid leukaemias also exist, and the distinction between these and lymphomas can be difficult. Hodgkin’s Lymphoma Epidemiology This is rare; incidence is 2.5-4 per...

Marrow fibrosis and splenomegaly, de novo or following transformation of PV or ET Usually >50 years old Abnormal megkaryocytes produced in increased numbers. PDGF and TGFβ are released by megakaryocytes, stimulating fibrosis. Haematopoietic stem...

Introduction Myeloma is a malignant disease of the plasma cells of the bone marrow.  Its name suggests that it is a disease of the myeloid stem cells, but this is not the case. All blood...

Clonal proliferation of haematopoietic components in the bone marrow leads to an increase in numbers of one or more lineages of mature blood cells. Myeloproliferative disorders have the potential to transform into acute leukaemia.

Factor XI deficiency: mainly found in Ashkenazi Jews, recessive inheritance. Homozygotes <5% levels of factor XI. Factor XI concentrate given. Factor VII deficiency: autosomal recessive, variable bleeding severity, risk of CNS haematoma. Diagnosis by...

Polycythaemia is a raised RBC count, haemoglobin and packed cell volume/haematocrit Absolute increase in red cell mass: polycythemia vera, secondary to hypoxia or abnormal EPO secretion Apparent polycythemia: plasma volume reduced, red cell mass...