Haemophilia A

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...

More

Haemophilia B (Christmas Disease)

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...

More

Iron Studies

This test is used to distinguish iron-deficiency anaemia from other microcytic anaemias (usually anaemia of chronic disease, or rarely thalassaemia) In many cases of iron deficiency anaemia, the diagnosis is straightforward, and can be made...

More

Leukaemia

Introduction Leukaemia is a broad term, applied to a range of blood cell cancers. The leukaemias can be classified as acute or chronic, and sub-classified as myeloid or lymphoid.  Thus, there are four classifications: ALL...

More

Lymphoma

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...

More

Myelofibrosis

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...

More

Myeloma

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...

More

Myeloproliferative Diseases

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.

More

Other Coagulation Factor Deficiencies

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...

More

Polycythaemia Vera

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...

More