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CSI Case 1: Sickle Cell Anaemia By Aoife Madden BSc Pharmacology Distinction in Medical Sciences Swinford Evans OSCE Prize Winner • The structure of Adult Cell Haemoglobin (HbA) • The structure of Sickle Cell Haemoglobin What We're (HbS) • Electrophoresis of Sickle Cell Anaemia Going to • Blood film analysis Cover • Symptoms • Diagnosis • Management • Your assessment of Murewa Abebi • tAPP guidance 1-POM-5-5: Microscopy of blood cells: Set up and use a light microscope to identify the major types of white blood cells via appropriate staining techniques. used in clinical diagnosis, and common abnormalities, including anaemiacells, their parametersMenti Code: 7760 3146 What do you know about Haemoglobin?Menti Code: 7760 3146 What do you know about Anaemia? The Structure of Adult Haemoglobin (HbA) Properties of HbA: 2x Alpha chains- 141 amino 4x Haem molecules bind to Found in acids each O2 erythrocytes and transports O2 The chains are from the lungs to arranged peripheral tissues tetrahedrally Transports CO2 Allosteric protein from peripheral allowing a co- tissues to the operative binding lungs effect 2x Beta chains- 146 amino 1-POM-2-1:Redbloodcells:Listtheoriginandfunctions of acids each redbloodcells, their parameters usedinclinical diagnosis, andcommonabnormalities, includinganaemia redbloodcells, their parameters usedinclinical diagnosis, andcommonabnormalities, includinganaemia The Structure of Sickle Haemoglobin (HbS) How do HbA and HbS differ? Sickle Haemoglobin is created by an autosomal recessive mutation in the beta globin (HBB) gene Mutated HBB Normal HBB = Sickle cell trait Mutated HBB Mutated HBB Sickle cell disease = What does the mutation look like? Non-conservative missense mutation: 6th amino acid (Glutamate) is swapped with Valine Amino Acid Amino Acid Amino Acid Amino Acid Amino Acid Glutamate Amino Acid Amino Acid 1 2 3 4 5 hydrophobic 7 8Menti Code: 7760 3146 True or False 1-POM-2-1:Redbloodcells:Listtheoriginandfunctions of redbloodcells, their parameters usedinclinical diagnosis, andcommonabnormalities, includinganaemia The Structure of Sickle Haemoglobin (HbS) Why is the structure of HbS harmful? HbS carries O2 as normal but when deoxygenated the beta globin chains change shape... Sickle Cell What does sickling mean clinically? What is it dangerous? Factors that affect Sickle Cell Anaemia Acidosis Low O2 Small Radius Concentration VesselsMenti Code: 7760 3146 Exam Style Question 1-POM-5-5:Microscopy of bloodcells:Setupandusealight microscopetoidentify themajor types of whitebloodcells via appropriatestainingtechniques. Electrophoresis and Sickle Cell Anaemia What is Electrophoresis? A technique used to separate molecules based on their charge and mass Glutamate Valine is Sickle cell haemoglobin is less negative than HbA is negative neutral • HbA moves the furthest towards the positive • HbS moves the least far towards the positive • Two bands appear for the sickle cell trait mutation because it's autosomal recessiveBlood Film Analysis Why do sickle cell patients have a Reticulocytes higher than normal reticulocyte count? • Defective sickle cells can't carry Target Cells oxygen very well • Bone marrow has to produce more red blood cells • Reticulocytes are immature red Normal Red blood cells Blood Cells • They can carry oxygen • But don't have the flexibility of mature red blood cells... Sickle CellsMenti Code: 7760 3146 Quick Fire Questions • The structure of Adult Cell Haemoglobin (HbA) • The structure of Sickle Cell Haemoglobin (HbS) • Electrophoresis of Sickle Cell Anaemia Mini • Blood film analysis Summary • Symptoms • Diagnosis • Management • Your assessment of Murewa Abebi • tAPP guidance 1-POM-5-5: Microscopy of blood cells: Set up and use a light microscope to identify the major 1-POM-2-1: Red blood cells: List the origin and functions of red blood cells, their parameters used in clinical diagnosis, and common abnormalities, including anaemiaSigns & Symptoms • Vision Loss • Strokes • Bone Crises • SplenomegalyVision Loss Sickle cells accumulate in the microvasculature of the retina Pressure increases Blood vessels become damaged Ischaemia causes chemokine release Angiogenesis causes collateral formation Collaterals are easily damaged and can grow across areas of vision 1-POM-2-1: Red blood cells: List the origin and functions of red blood cells, their parameters used in clinical diagnosis, and common abnormalities, including anaemia Strokes Ischaemic Stroke: Haemorrhagic Stroke: • Sickle cells block blood • Occurs due to vessels • Lack of blood supply leads angiogenesis to ischaemia and • Collaterals are easily infarction broken • Silent strokes are • Causing blood to leak out into tissues asymptomatic 1-POM-2-1:Redbloodcells:Listtheoriginandfunctions of redbloodcells, their parameters usedinclinical diagnosis, andcommonabnormalities, includinganaemia Bone Crises • Reduced flow to the bone marrow due to microvascular occlusion • Prolonged ischaemia leads to infarction • Ischaemia exacerbates sickling Healthy Bones Sickle Cell Crisis inclinical diagnosis, andcommonabnormalities, includinganaemiaells, their parameters usedMenti Code: 7760 3146 Exam Style QuestionDiagnosing Sickle Cell Anaemia Sickle Solubility Test Electrophoresis Blood is taken Sodium dithionite is added as a reducing agent Diagnosis Haemoglobin is released HbA dissolves easily in blood plasma HbS is less soluble causing the Screening solution to become turbid 1-POidentify themajor types of whitebloodcells viaappropriatestaining Pregnant women techniques. 1-their parameters usedinclinical diagnosis, andcommonabnormalities, Genetic counselling includinganaemiaManagement Blood Managing Hydroxycarb Bone Gene Antibiotics Transfusions Crises amide Marrow Therapy Transplant Mechanism Supply functioning Painkillers and Stimulates Replaced mutated Viral vectors insert Daily doses of erythrocytes, iron opioids for severe synthesis of fetal hematopoietic functional gene antibiotics Children chelation therapy pain, hydration, haemoglobin, stem cells with into haemopoietic should have all reduces excess iron keeping warm, hydroxycarbamide hematopoietic stem cell routine levels avoiding high suppresses stem cells that are vaccinations/ altitudes and low reticulocyte and not mutated additional vaccines- oxygen levels neutrophil flu and hep B production Adverse Hemosiderosis Opioids are highly Increased risk of Only available to Expensive No evidence of addictive infection young patients, increased risk to Effects matched donor health needs to be found 1-their parameters usedinclinical diagnosis, andcommonabnormalities, includinganaemiaMenti Code: 7760 3146 Final Menti! T app Guidance Take 5-10 minutes to Take 5-10 minutes to plan and allocate tasks plan and allocate tasks Make sure to include a clear title Read through the Integrate relevant information given and statistics ensure any statistics are fully understood Use the PowerPoint templates provided Try and save 10 minutes at the end to Make sure your proof read and cut infographic appeals to down answers your target audience • The structure of Adult Cell Haemoglobin (HbA) • The structure of Sickle Cell Haemoglobin (HbS) • Electrophoresis of Sickle Cell Anaemia What We've • Blood film analysis Covered • Symptoms • Diagnosis • Management • Your assessment of Murewa Abebi • tAPP guidance 1-POM-5-5: Microscopy of blood cells: Set up and use a light microscope to identify the major 1-POM-2-1: Red blood cells: List the origin and functions of red blood cells, their parameters used in clinical diagnosis, and common abnormalities, including anaemiaFeedback Form!