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47 Cards in this Set

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What are the four types of microcytic anaemia?
Iron Deficiency anaemia, anaemia of chronic disease, sideroblastic anaemia, thalassemia.
Define anaemia
Anaemia = decrease or a fall in the level of haemoglobin in the blood below the reference level normal for age and sex of indiv.
Classify anaemia
1. Microcytic (low Mean Cell Volume) 2. Normocytic (normal MCV) 3. Macrocytic (high MCV), 4. Haemolytic (normo- or macro-cytic)
What are the clinical features of anaemia (common)
Sym: fatigue, h/a, faintness, breathlessness, angina, palpitations, intermittent claudication. Signs: pallor, tachycardia, systolic flow murmur, cardiac failure. May be affected by speed of onset, severity, age.
What is def, aetiology, pathogenesis, clinical features, management of iron deficiency anaemia
Def: IDA develops when there is inadq iron for haemoglobin synth, usually assoc with depleted iron stores. A: blood loss, poor diet, increased demand, decrease absorp, poor intake. CF: spoon nails, brittle hair, glossitis, dysphagia, poor thermoregulation. Invest: Normal blood film - hypochromic microcytic anaemia. decreased MCV. Iron Studies - serum FE low, increase TIBC. Mgt: identify and treat cause, oral iron, parenteral iron.
DD: Microcytic anaemia, megaloblastic anaemia.
What is role of B12 and folate in body and how does xu lead to anaemia
B12 and Folate: required in DNA (esp RBC) production
What are the cellular components of blood?
RBC (99%), WBC (granular and agranular), platelets, thrombocytes, plasma
Define haemoglobin and what is its function?
Defin: globin protein consisting of 4 polypetide chains
Fx; Transports O2 and buffers H+ ions
What are the phases of haemostasis?
Gap plugging by platelets (delayed bleeding from cuts, bleeding into skin and mucous membranes)
Fibrinolysis / limitation of coagulation
Coagulation cascade (delay causes bleeding into joints and muscle)
What are haemopoitic growth factors?
Regulate differentiation and prolif; Erythopoietin (EPO) - produced in kids, increase RBC precursors; Thrombopoietin (TPO) - hormone from liver, stimulates platelet formation; Cytokines are local hormones of bone marrow - may stimulate proliferation of other marrow cells, colony-stimulating factor (CSF) and interleukin stimulate WBC prodn.
What is haemoglobin?
Globin protein consisting of 4 polypetide chains; one heme pigmen attached to each polypeptide chain and each heme contain an iron ion that can combine irreversible to one o2 molecule.
Define acquired sideroblastic anaemia
A RBC disorder characterised by ineffective erythropoiesis, leading to increased iron absorption, iron loading and haemosiderosis (endocrine, liver, cardiac damage due to iron deposition). Acquired usually idiopathic. Hyperchromic RBS are seen on blood film with ring sideroblasts in the marrow. Treat by removal of cause, B12, blood transfusion.
Define anaemia of chronic disease
Microcytic hypochromic anaemia found in patients suffering chronic diseases; caused by poorly managed infection, malignant, inflammatory diseases
What is the aetiology of Anaemia of chronic disease
Chronic inflammatory disease eg: SLE, RA, polymyalgia rheumatica, crohn's disease; chronic infective diseases eg: Infective endocarditis, TB, osteomyelitis.
What is the pathogenesis of Anaemia of chronic disease
Mediated by inflammatory cytokines
Decreased release of iron from body stores for developing erythroblasts
Inadequate EPO response
Decrease RBC survival times
What investigations do you do for Anaemia of chronic disease
Mild normocytic anaemia (Hb >8g/dL), ferritin normal of increased. Decreased serum iron and TIBC (total iron binding capacity)
What is treatment for Anaemia of chronic disease
Unresponsive to iron therapy
Treat underlying condition
Trials of oral Fe + EPO promising in RA
What is the aetiology of acquired sideroblasti anaemia
Inherited on linked X chromosome, appearing in infants
Acquired primarily by myelodysplastic syndrome (MDS) in elderly.
Secondarily acquired myeloid leukaemia, chronic mylelogenous leukemia (CML)
Drug use, alcohol use, lead poisoning, chronic inflammation
What is the pathogenesis of acquired sideroblasti anaemia
Inherited on X linked chromosome, or acquired defect in the enzyme gamma-aminolaevulaic acid (ALA) synthetase which is resp for first step in haem synth.
Accumulation of iron in erythoblasts, but in absence of normal haem, iron accumulates in mitochrondria, forming a stainable ring around nucleus = ring sideroblast.
What is the treatment for acquired sideroblasti anaemia
Transfusions, B12 and folate, withdrawal from drugs, alcohol, lead.
Define normocytic anaemia
Erythocyte is normal in size but there is a low number of erythocytes.
What is the aetiology of normocytic anaemia
Blood loss, endocrine disease (hypopituitarism, hypothryroidism), haematological disease, liver disease, renal failure, chronic inflammation, malignancy, common cause in pregnancy. Invest: B12 and folate levels are normal.
What is macrocytic anaemia
is where MCV >96fL. PA is most common Macrocytic anaemia. Causes are 1. megaloblastic anaemia - b12 xu, folate xu, cytotoxic drugs. Presence of erythroblasts with delayed nuclear maturation in BM due to defective DNA synthesis,
2. Non megaloblastic: alchol, reticulocytosis, liver disease, hypothyroidism, pregnancy.
3. Other - myelodysplasia, myeloma, aplastic anaemia.
What is pernicious anaemia
PA is atrophy of gastric mucosa with consequent failure of intrinsic factor production which results in B12 malabsorption.
Occurs in 1 in 800 people over 60 esp in fair caucasians. A&P: autoimmune, atrophy, parietal cell antibodies, IF antibodies.
What is A and P of PA
autoimmune in nature; other autoimmune associations; pathological changes in Stomach, mucosal atrophy etc, parietal cell antibodies in 90% patients; IF antibodies in 50% patients
What are clinical features of PA? Investigations?
Anaemia, jaundice, glossitis (irreversible), neurological changes eg: progressive polyneuropathy, parestheisa, loss of proprioception, weakness and ataxia, paraplegia, dementia, delusions.
Invest: antibodies, schillings test
What is folate deficiency anaemia
Caused by folate xu, RBCs are large (megalocytes). May be known as megaloblastic anaemia. Caused by nutritional inadequacy.
What is aplastic anaemia
Collection of disorders in which the bone marrow does no produce enough Blood Cells.
What is pathology of aplastic anaemia
decreased number of pluripotential stem cells in Bone Marrow and faults in those remaining, failure of just one cell line may occur in isolation rarely, can sometimes evolve into myelodysplasia and ML.
What causes aplastic anaemia
It is a collection of d/o where bone marrow doesn't produce enough blood cells reustling in pancytopenia and aplasia of BM.
Caused by faulty immune reaction against pluripotent cells, chemical agents, radiation.
What is inherited haemolytic anaemia
A range of disorders characterised by increased RBC destruction. Caused by defective membrane synth. Can be intravascular or extravascular (in liver, spleen, BM). Can be grouped as inherited, acquired, misc.
What is thalassaemias
genetic diseases of unbalance HB synthesis, due to underproduction (or no prod) of one globin chain.
Occurs as a result of either genetic deletion or mutation.
Unmatched globins developed, damaging RBC membranes, causing haemolysis while still in the marrow.
What is beta thalassaemia
Usually caused by point mutations in beta-globin gens on chromosome 11, leading to decrease beta chain production of absence. B-thal minor is carrier, mild anaemia (dd; Fe xu anaemia). B-thal major - both beta-genes, severe anaemia and failure to thrive. Extramedullary haematopoiesis.
Descibe beta thalassaemia minor
caused due to decreased syn of beta chain. common in mediterranean area, asymptomatic, Haemoglobin usually 100-130g/l, MCV 60-70fl, RCC normal or increased
Describe beta thalassaemia major
Much more severe condition, little of no beta chain production, diagnosed 3-6 months.
What are clinical findings of beta thalassaemia
Slight jaundice
Marked bone changes due to bone marrow extension
Blood transfusion req to maintain Hb levels, however this leads to iron overload. 50% mortality by early adulthood.
What is alpha thalassaemia
Gene defect on one of four alpha chains. Treat with blood transfusions, folate supplementation, splenectomy, bone marrow transplants.
What is acquired haemolytic anaemia
Increased destruction of RBC therefore low erythorcyte count and low Hb., Caused by Red cell membrane defect, Hb abnormality, acquired (drug induced, transfusion reaction = autoimmune response).
What is normal reference range for haemoglobin?
Men; 13-18g/dL
Women; 11.5-16g/dL
What is normal reference range for platelets?
150-400 x 10 to the 9th/L
What is normal reference range for WBCs
4-11 x 10 to the 9th/L
What is normal reference for Mean cell volume
What is pancytopenia?
an abnormal deficiency in all blood cells (red blood cells and white blood cells and platelets)
Compare IDA, PA, AA, Sickle Cell by Character of RBC, Etiology and other effects
IDA: microcytic, hypochromic, low Hb production, E: decreased dietary intake, malabsorption, blood loss.
PA: megaloblasts, short life span, E, deficit of IF due to immune reaction, Other: neuro damage, achylorhydria.
AA: normal cells, pancytopenia, E; BM damage, Other: xs bleeding and infections.
SCA: RBC elongates and hardens, haemolysis, E: recessive inheritance, other; painful crisis, infarctions, hyperbilirubinemia.
What is sickle cell anaemia
Inherited haemolytic anaemia where RBC membrane is defective,
what is the tx approach for congenital haemolytic anaemia
Thalassaemia: folate supplement, transfusions*, iron-chelators to stop deposition, Vit C to increase excretion, splenectomy, marrow transplant*. * for SSA
What are the two haemoglobinopathies?
SSA and thalassaemia