Anaemias, leukaemias, lymphomas, coagulopathies, thrombophilias, and transfusion medicine with laboratory interpretation.
Malignant proliferation of lymphoid blast cells in bone marrow and blood. Most common childhood cancer (peak age 2–5 years). Highly curable in children (~90% survival) but carries a poorer prognosis in adults.
Malignant proliferation of myeloid blast cells in bone marrow. Most common acute leukaemia in adults (median age 68 years). Characterised by Auer rods on blood film and ≥20% myeloid blasts in marrow.
A group of disorders caused by extracellular deposition of abnormally folded proteins (amyloid fibrils) in tissues, leading to progressive organ dysfunction. AL amyloidosis (immunoglobulin light chain) and AA amyloidosis (serum amyloid A) are the most common types.
Second most common cause of anaemia worldwide, occurring in the setting of chronic infection, inflammation, or malignancy. Characterised by raised ferritin, low serum iron, and low TIBC, mediated by hepcidin.
Bone marrow failure syndrome characterised by pancytopenia and hypocellular bone marrow. Autoimmune T-cell mediated destruction of haematopoietic stem cells in most cases. Treated with immunosuppression or stem cell transplant.
Acquired haemolytic anaemia caused by autoantibodies against red blood cells. Classified as warm (IgG, extravascular) or cold (IgM, intravascular/extravascular). Diagnosed by positive direct antiglobulin test (DAT/Coombs).
Most common leukaemia in the Western world, characterised by accumulation of mature-appearing but functionally incompetent B lymphocytes. Often incidental finding in elderly. Many patients never need treatment.
Myeloproliferative neoplasm characterised by the Philadelphia chromosome t(9;22) BCR-ABL1 fusion gene. Tyrosine kinase inhibitors (imatinib) have transformed CML from a fatal disease to one with near-normal life expectancy.
Most common inherited thrombophilia caused by a point mutation in factor V rendering it resistant to inactivation by activated protein C, increasing venous thromboembolism risk.
Common cause of megaloblastic macrocytic anaemia due to reduced folate intake or increased demand. Unlike B12 deficiency, does NOT cause neurological damage. Critical in pregnancy for prevention of neural tube defects.
Thrombotic microangiopathy characterised by microangiopathic haemolytic anaemia, thrombocytopenia, and acute kidney injury, most commonly triggered by Shiga toxin-producing E. coli.
X-linked recessive bleeding disorders caused by deficiency of clotting factor VIII (haemophilia A) or factor IX (haemophilia B), characterised by joint and soft tissue bleeding.
Immune-mediated prothrombotic disorder caused by antibodies against platelet factor 4-heparin complexes, paradoxically causing thrombosis rather than bleeding.
Most common inherited haemolytic anaemia in Northern Europeans, caused by defects in red cell membrane proteins leading to spherical, less deformable RBCs that are trapped and destroyed in the spleen.
Lymphoid neoplasm characterised by Reed-Sternberg cells in a reactive inflammatory background. Highly curable with chemotherapy ± radiotherapy. Bimodal age distribution with peaks at 20–30 and >60 years.
Autoimmune condition causing isolated thrombocytopenia due to antiplatelet antibodies, presenting with mucocutaneous bleeding and bruising.
Most common cause of anaemia worldwide, characterised by microcytic hypochromic anaemia due to insufficient iron for haemoglobin synthesis. In adult males and postmenopausal females, GI malignancy must be excluded.
A premalignant condition defined by a serum paraprotein <30 g/L, bone marrow plasma cells <10%, and absence of myeloma-related organ damage (CRAB criteria). Progresses to myeloma or related malignancy at approximately 1% per year.
Malignant proliferation of plasma cells producing a monoclonal immunoglobulin, causing bone destruction, renal impairment, anaemia, and hypercalcaemia.
Clonal haematopoietic stem cell disorders characterised by dysplastic haematopoiesis, cytopenias, and risk of transformation to acute myeloid leukaemia. Most common in elderly males.
Myeloproliferative neoplasm characterised by progressive bone marrow fibrosis, extramedullary haematopoiesis causing massive splenomegaly, and constitutional symptoms.
A medical emergency defined as neutrophil count <0.5 × 10⁹/L with fever ≥38°C or signs of sepsis, most commonly following cytotoxic chemotherapy. Requires immediate empirical antibiotics within 60 minutes per NICE CG151.
Heterogeneous group of lymphoid neoplasms (mostly B-cell), ranging from indolent (follicular) to aggressive (DLBCL, Burkitt). More common than Hodgkin lymphoma. Treatment and prognosis vary greatly by subtype.
Acquired clonal stem cell disorder caused by PIGA gene mutation, resulting in GPI-anchor deficient blood cells susceptible to complement-mediated haemolysis. Characterised by haemolytic anaemia, thrombosis, and bone marrow failure.
Myeloproliferative neoplasm characterised by JAK2 mutation-driven erythrocytosis, with increased risk of thrombosis, bleeding, and transformation to myelofibrosis or acute leukaemia.
Inherited haemoglobinopathies caused by reduced or absent α- or β-globin chain synthesis, resulting in ineffective erythropoiesis and microcytic anaemia. β-thalassaemia major requires lifelong transfusion.
Inherited or acquired predisposition to venous thromboembolism, requiring selective testing in appropriate clinical contexts rather than blanket screening.
Life-threatening thrombotic microangiopathy caused by severe ADAMTS13 deficiency, characterised by microangiopathic haemolytic anaemia, thrombocytopenia, and organ ischaemia.
Adverse immunological and non-immunological reactions to blood product transfusions, ranging from mild febrile reactions to life-threatening haemolytic reactions and TRALI.
An oncological emergency caused by rapid cell death (spontaneous or treatment-induced) releasing intracellular contents, leading to hyperuricaemia, hyperkalaemia, hyperphosphataemia, and hypocalcaemia, with risk of AKI and fatal arrhythmias.
Deficiency causing megaloblastic macrocytic anaemia and neurological damage (subacute combined degeneration of the cord). Pernicious anaemia (autoimmune) is the commonest cause in the UK. Neurological damage may be irreversible if treatment delayed.
Most common inherited bleeding disorder, caused by quantitative or qualitative deficiency of von Willebrand factor, presenting with mucocutaneous bleeding.