Anaemia and Blood Disorders Quiz
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Questions and Answers

Which condition indirectly contributes to anaemia but is not a direct cause?

  • Splenomegaly (correct)
  • Shortened RBC life span
  • Mutations in haemoglobin
  • Blood loss
  • What is a primary effect of Pyruvate Kinase Deficiency on red blood cells?

  • Reduced DNA synthesis
  • Reduced ATP formation (correct)
  • Reduced 2-3 DPG synthesis
  • Reduced haemoglobin synthesis
  • Pernicious anaemia is primarily associated with a deficiency in which vitamin?

  • Vitamin B12 (correct)
  • Vitamin D
  • Vitamin K
  • Vitamin C
  • What genetic pattern does Thalassaemia follow?

    <p>Autosomal recessive inheritance (B)</p> Signup and view all the answers

    What does the direct Coombs test primarily detect?

    <p>Antibodies present on the red blood cell surface (B)</p> Signup and view all the answers

    What characteristic is associated with acute leukaemia?

    <p>Fast progression with &gt;30% blasts in the bone marrow (B)</p> Signup and view all the answers

    Which is a consequence of mutations in haemoglobin chain genes?

    <p>Thalassaemia (D)</p> Signup and view all the answers

    Which of the following correctly describes the role of EPO in anaemia?

    <p>It stimulates red blood cell production (B)</p> Signup and view all the answers

    What is the key laboratory test to confirm hereditary spherocytosis?

    <p>Osmotic fragility test (D)</p> Signup and view all the answers

    Which blood disorder is associated with an increased risk of thrombotic events?

    <p>Polycythaemia vera (A)</p> Signup and view all the answers

    What is the most likely cause of elevated haemoglobin and haematocrit in a patient with polycythaemia vera?

    <p>JAK2 mutation (B)</p> Signup and view all the answers

    What is the main clinical feature of von Willebrand disease?

    <p>Mucosal bleeding (B)</p> Signup and view all the answers

    Which vitamin is crucial for the synthesis of clotting factors II, VII, IX, and X?

    <p>Vitamin K (A)</p> Signup and view all the answers

    Which anticoagulant is commonly used in blood collection tubes for a complete blood count (CBC)?

    <p>EDTA (A)</p> Signup and view all the answers

    What is a key diagnostic feature of disseminated intravascular coagulation (DIC)?

    <p>Prolonged PT and APTT, and low fibrinogen (B)</p> Signup and view all the answers

    Which type of anaemia is commonly seen in chronic kidney disease?

    <p>Normocytic normochromic anaemia (A)</p> Signup and view all the answers

    Which compound initiates fatty acid synthesis?

    <p>Acetyl CoA (B)</p> Signup and view all the answers

    Which cofactor is essential for the activation of phosphatidate in phosphoglyceride biosynthesis?

    <p>CTP (C)</p> Signup and view all the answers

    What is crucial for the iron ion in red blood cell metabolism to effectively carry oxygen?

    <p>The iron ion needs to be in its reduced form (B)</p> Signup and view all the answers

    What is the primary cause of Tay Sachs disease?

    <p>A deficiency in Hexosaminidase A (A)</p> Signup and view all the answers

    Proteins are primarily tagged for degradation through which process?

    <p>Addition of ubiquitin by an isopeptide bond (B)</p> Signup and view all the answers

    What does a low reticulocyte count in a blood test suggest?

    <p>Bone marrow dysfunction (B)</p> Signup and view all the answers

    What is the most prevalent cause of microcytic hypochromic anemia?

    <p>Iron deficiency (A)</p> Signup and view all the answers

    Which laboratory parameter is likely to be elevated in cases of iron-deficiency anemia?

    <p>High Total Iron Binding Capacity (TIBC) (C)</p> Signup and view all the answers

    Which red blood cell index is specifically used to determine the size classification of anaemia?

    <p>Mean corpuscular volume (MCV) (D)</p> Signup and view all the answers

    What is the primary genetic defect associated with beta-thalassaemia?

    <p>Mutation in the beta-globin gene (B)</p> Signup and view all the answers

    What is the hallmark feature seen in megaloblastic anaemia on a blood film?

    <p>Hypersegmented neutrophils (D)</p> Signup and view all the answers

    Which laboratory finding typically indicates pernicious anaemia?

    <p>Macrocytic red blood cells (A)</p> Signup and view all the answers

    What is the primary defect observed in sickle cell anaemia?

    <p>Mutation in beta-globin leading to HbS formation (B)</p> Signup and view all the answers

    Which test is a standard method for diagnosing sickle cell disease?

    <p>Haemoglobin electrophoresis (B)</p> Signup and view all the answers

    What is a significant finding in the blood film of a patient with lead poisoning?

    <p>Basophilic stippling (C)</p> Signup and view all the answers

    In glucose-6-phosphate dehydrogenase (G6PD) deficiency, which pathway is primarily affected?

    <p>Pentose phosphate pathway (A)</p> Signup and view all the answers

    What is a defining characteristic of acute myeloid leukaemia (AML)?

    <p>Rapid progression with &gt;20% myeloblasts in the bone marrow (D)</p> Signup and view all the answers

    Which genetic abnormality defines chronic myeloid leukaemia (CML)?

    <p>BCR-ABL fusion gene (Philadelphia chromosome) (B)</p> Signup and view all the answers

    What type of abnormal protein is commonly detected in the urine of patients with multiple myeloma?

    <p>Bence-Jones protein (B)</p> Signup and view all the answers

    What specific cell type characterizes Hodgkin lymphoma?

    <p>Reed-Sternberg cells (D)</p> Signup and view all the answers

    In chronic lymphocytic leukaemia (CLL), which cell lineage is predominantly affected?

    <p>B lymphocytes (A)</p> Signup and view all the answers

    Which blood group antigen is most likely to result in severe haemolytic disease of the newborn (HDN)?

    <p>Rh (D) antigen (A)</p> Signup and view all the answers

    Which test is used to detect recipient antibodies against donor red cells in crossmatching for blood transfusion?

    <p>Indirect antiglobulin test (IAT) (A)</p> Signup and view all the answers

    What is the main role of immunoglobulin IgG in blood transfusion reactions?

    <p>Coats red blood cells for removal by macrophages (A)</p> Signup and view all the answers

    What is associated with a prolonged activated partial thromboplastin time (APTT) and a normal prothrombin time (PT)?

    <p>Factor VIII deficiency (C)</p> Signup and view all the answers

    Which parameter in a complete blood count (CBC) indicates red blood cell size variability?

    <p>Red cell distribution width (RDW) (C)</p> Signup and view all the answers

    What is the main purpose of flow cytometry in hematology?

    <p>Detection of cell surface markers (C)</p> Signup and view all the answers

    In which condition are Heinz bodies typically observed?

    <p>G6PD deficiency (B)</p> Signup and view all the answers

    What laboratory method is used to evaluate clot retraction?

    <p>Thromboelastography (TEG) (B)</p> Signup and view all the answers

    What is the most likely cause of a blood smear showing schistocytes?

    <p>Disseminated intravascular coagulation (DIC) (A)</p> Signup and view all the answers

    Which factor is involved in hemophilia A?

    <p>Factor VIII (A)</p> Signup and view all the answers

    In which condition is the presence of Reed-Sternberg cells a defining characteristic?

    <p>Hodgkin lymphoma (A)</p> Signup and view all the answers

    Flashcards

    What is NOT a direct cause of anaemia?

    Splenomegaly, while it can worsen anaemia, is not a direct cause. The primary causes of anaemia include shortened RBC lifespan, mutations in haemoglobin, blood loss, and insufficient EPO production.

    What does Pyruvate Kinase Deficiency lead to?

    Pyruvate kinase deficiency disrupts the glycolysis process, leading to insufficient ATP production within red blood cells, crucial for energy production and function.

    What type of anaemia is Pernicious anaemia linked to?

    Pernicious anaemia is characterized by impaired absorption of vitamin B12 due to the lack of intrinsic factor, essential for vitamin B12 uptake.

    What is Thalassaemia?

    Thalassaemia is a genetic disorder caused by mutations in genes responsible for haemoglobin production, usually on chromosomes 11 and 16.

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    What does the direct Coombs test look for?

    The direct Coombs test identifies antibodies directly bound to the surface of red blood cells, particularly relevant in autoimmune haemolytic anaemia.

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    What are the key characteristics of Acute leukaemia?

    Acute leukaemia is a rapidly progressing blood cancer with a high percentage of blast cells (>30%) in the bone marrow, posing a serious threat.

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    What is MCV?

    A measure of the average volume of red blood cells, helping to diagnose anemia types.

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    What does TIBC measure?

    A blood test that measures the total amount of iron that can be bound to transferrin, a protein that transports iron in blood.

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    What is Sickle Cell Anaemia?

    A genetic disorder characterized by a mutation in the beta-globin gene, resulting in the production of abnormal hemoglobin (HbS).

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    What is Pyruvate Kinase Deficiency?

    A form of anemia caused by a deficiency of the enzyme pyruvate kinase, which is involved in glycolysis.

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    What is Haemoglobin Electrophoresis?

    A blood test used to detect sickle cell disease, which is a common genetic disorder.

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    What is Serum Ferritin?

    A blood test that measures the amount of iron stored in the body, often used to assess iron deficiency.

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    What are Basophilic Stippling?

    A characteristic finding on a blood film of patients with lead poisoning, often seen as small dark blue dots.

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    What does Haemoglobin Concentration measure?

    A blood test that measures the concentration of hemoglobin, a protein in red blood cells that carries oxygen.

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    Reticulocyte count

    Indicates the number of immature red blood cells (reticulocytes) in the blood. It reflects the bone marrow's ability to produce new red blood cells.

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    Microcytic hypochromic anemia

    Iron deficiency is the most common cause of this type of anemia, characterized by small (microcytic) and pale (hypochromic) red blood cells.

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    Iron-deficiency anemia

    A condition where the body doesn't have enough iron. This can be caused by dietary deficiencies, blood loss, or impaired absorption.

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    TIBC (Total Iron Binding Capacity)

    A test that measures the iron-binding capacity of the blood. It's often used to diagnose iron deficiency anemia.

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    Serum Ferritin

    A protein that stores iron in the body. Low serum ferritin levels are a sign of iron deficiency.

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    Transferrin Saturation

    A protein that transports iron in the blood. High transferrin saturation indicates that the iron-binding sites on transferrin are mostly filled.

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    Hemoglobin

    The protein in red blood cells that carries oxygen. It contains iron, which is essential for oxygen transport.

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    Hemoglobinopathy

    A type of anemia caused by a genetic defect in the production of hemoglobin. This defect leads to abnormal or deficient hemoglobin production, causing red blood cells to be misshapen.

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    What is the Osmotic Fragility Test?

    A laboratory test measuring the fragility of red blood cells when exposed to varying salt concentrations, used to identify hereditary spherocytosis, a disorder where red blood cells are abnormally round.

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    Which blood disorder is associated with a higher risk of blood clots?

    A blood disorder characterized by an overproduction of red blood cells, increasing blood viscosity and leading to clot formation.

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    What anticoagulant is commonly used in blood collection tubes for CBC?

    Anticoagulant often used to prevent blood clotting in blood collection tubes for CBC (complete blood count) analysis.

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    What is a key diagnostic feature of DIC?

    A condition characterized by widespread activation of clotting within the blood, leading to both excessive clotting and bleeding due to depletion of clotting factors.

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    What stain is typically used to visualize blood films?

    A blood film staining technique commonly used in hematology laboratories to visualize blood cells and their features, aiding in diagnosis.

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    What type of anemia is common in chronic kidney disease?

    A type of anemia often associated with chronic kidney disease, characterized by normal size and color of red blood cells but an overall decrease in red blood cell count.

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    What does the direct Coombs test detect?

    A laboratory test used to detect the presence of antibodies attached to the surface of red blood cells, often employed to diagnose autoimmune haemolytic anemia.

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    Which vitamin is essential for the production of clotting factors?

    A crucial vitamin in the synthesis of clotting factors II, VII, IX, and X, playing a vital role in hemostasis and blood clotting.

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    What is the pre-analytical phase in laboratory testing?

    The pre-analytical phase in laboratory testing involves ensuring the sample is correctly identified, properly stored, and that any control data is within the expected range.

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    What is a key characteristic of acute myeloid leukemia (AML)?

    Acute myeloid leukemia (AML) is a type of blood cancer defined by a rapid progression and an excessive number of myeloblasts (immature white blood cells) in the bone marrow, often exceeding 20%.

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    What is the genetic hallmark of chronic myeloid leukemia (CML)?

    The Philadelphia chromosome, a specific genetic abnormality resulting from the fusion of the BCR and ABL genes, is a defining characteristic of chronic myeloid leukemia (CML).

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    What abnormal protein is often found in the urine of multiple myeloma patients?

    Bence-Jones protein, an abnormal protein produced by plasma cells, is frequently detected in the urine of patients with multiple myeloma.

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    What type of cells define Hodgkin lymphoma?

    Reed-Sternberg cells, unique large cells with a characteristic appearance, are the hallmark of Hodgkin lymphoma, a type of cancer affecting the lymphatic system.

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    Which cell lineage is predominantly affected in chronic lymphocytic leukemia (CLL)?

    Chronic lymphocytic leukemia (CLL) primarily affects B lymphocytes, a type of white blood cell responsible for the body's immune response.

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    Which blood group antigen is most likely to cause severe hemolytic disease of the newborn (HDN)?

    The Rh (D) antigen is the most likely blood group antigen to cause severe hemolytic disease of the newborn (HDN), a condition where the mother's antibodies attack the baby's red blood cells during pregnancy.

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    Which test identifies recipient antibodies against donor red cells in blood transfusion?

    The indirect antiglobulin test (IAT) is used to detect antibodies in the recipient's blood that are directed against red blood cells from the potential donor, a crucial step in blood transfusion compatibility testing.

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    Factor VIII

    Factor VIII is a clotting factor involved in the intrinsic pathway of coagulation. Deficiency in this factor leads to Hemophilia A, a bleeding disorder characterized by prolonged bleeding time and increased risk of bleeding.

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    Factor IX

    Factor IX, also known as Christmas factor, is another essential clotting factor involved in the intrinsic pathway, alongside Factor VIII. A deficiency in Factor IX results in Hemophilia B, a bleeding disorder similar to Hemophilia A.

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    Factor XI deficiency

    This factor plays a role in the intrinsic pathway of coagulation.

    Deficiency in Factor XI can lead to a bleeding disorder that is milder than Hemophilia A and B. Individuals with Factor XI deficiency may experience prolonged bleeding after surgery or injury.

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    Von Willebrand factor

    This protein helps platelets adhere to the vessel wall. Deficiencies in Von Willebrand factor can lead to von Willebrand disease, causing excessive bleeding. This disease is the most frequent inherited bleeding disorder.

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    Prolonged APTT with normal PT

    The activated partial thromboplastin time (APTT) measures the intrinsic pathway of coagulation. A prolonged APTT while the prothrombin time (PT) is normal points to a deficiency in the intrinsic pathway, most commonly Factor VIII.

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    What does RDW measure on a CBC?

    A complete blood count (CBC) measures the number and type of red blood cell (RBC) in a blood sample. RDW, Red Cell Distribution Width shows the variation in sizes among RBCs. It provides a clue to causes of anemia.

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    Flow cytometry in hematology

    Flow cytometry is a laboratory technique used to analyze cells. It utilizes antibodies that bind to cell surface markers, helping to identify cell types, stages of development, and cell populations (like immune cells).

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    What does TEG assess?

    Thromboelastography (TEG) is a laboratory test used to assess blood clotting ability. It provides a detailed analysis of the clot formation process, including clotting time, strength, and stability.

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    Study Notes

    Anaemia Causes

    • Splenomegaly is not a direct cause of anaemia, it can exacerbate it.
    • Shortened red blood cell lifespan, mutations in haemoglobin, blood loss, and lack of erythropoietin (EPO) production are direct causes of anaemia.

    Pyruvate Kinase Deficiency

    • Reduced ATP formation is a consequence of pyruvate kinase deficiency.

    Pernicious Anaemia

    • Pernicious anaemia is linked to Vitamin B12 deficiency.

    Thalassaemia

    • Thalassaemia is an inherited autosomal recessive disorder.
    • Mutations in haemoglobin chain genes, usually on chromosomes 11 and 16, cause thalassaemia.

    Coombs Test

    • The direct Coombs test identifies antibodies bound to red blood cell surfaces.

    Acute Leukaemia

    • Fast progression, easier to treat, and more than 20% blasts in the bone marrow are characteristics of acute leukaemia.

    Blood Film Observations

    • Hypochromic red blood cells have an increased central area of pallor, characteristic of iron deficiency anaemia.

    Personal Protective Equipment (PPE)

    • Waterproof trousers are not generally considered PPE in a laboratory setting.

    Blood Sample Disposal

    • Blood samples in Eppendorf tubes should be disposed of in biohazard bags with lids.

    Pre-analytical Phase

    • Patient identification checks and ensuring proper sample labelling and handling before analysis.

    Fatty Acid Synthesis

    • Acetyl CoA is the starting material for fatty acid synthesis.

    Phosphoglyceride Biosynthesis

    • CTP acts as a cofactor in phosphoglyceride synthesis.

    Red Blood Cell Metabolism

    • Iron needs to be in its reduced form to carry oxygen in red blood cells.

    Tay Sachs Disease

    • A defect in lipid degradation causes Tay-Sachs disease.

    Protein Degradation

    • Ubiquitin, attached by an isopeptide bond, marks proteins for degradation by the proteasome.

    Reticulocyte Count

    • The reticulocyte count in a blood test indicates bone marrow function and red blood cell production.

    Microcytic Hypochromic Anaemia

    • Iron deficiency is the most common cause.

    Iron Deficiency Anaemia

    • High total iron-binding capacity (TIBC) is a common laboratory finding.
    • Low serum ferritin is also commonly observed.

    Red Blood Cell Indices

    • Mean corpuscular volume (MCV) is used to classify anaemia as microcytic, normocytic, or macrocytic.
    • Mean corpuscular haemoglobin (MCH) and mean corpuscular haemoglobin concentration (MCHC) are also used.

    Beta-thalassaemia

    • A defect in the beta globin gene causes beta-thalassaemia.

    Megaloblastic Anaemia

    • Hypersegmented neutrophils are a hallmark feature of megaloblastic anaemia.

    Pernicious Anaemia Laboratory Findings

    • Macrocytic red blood cells are a common laboratory finding in pernicious anaemia.

    Sickle Cell Anaemia

    • A mutation in the beta-globin gene leads to haemoglobin S (HbS) formation in sickle cell anaemia.

    Sickle Cell Disease Detection

    • Haemoglobin electrophoresis is commonly used to detect sickle cell disease.

    Glucose-6-Phosphate Dehydrogenase (G6PD) Deficiency

    • G6PD is an enzyme deficient in hereditary haemolytic anaemia caused by pyruvate kinase deficiency.

    Lead Poisoning

    • Basophilic stippling is a characteristic blood film finding in lead poisoning.

    Glucose-6-Phosphate Dehydrogenase (G6PD) Pathway

    • The pentose phosphate pathway is impaired in G6PD deficiency.

    Haptoglobin Function

    • Haptoglobin binds free haemoglobin in the plasma.

    Haemolysis

    • Elevated LDH (lactate dehydrogenase) and unconjugated bilirubin are indicators of haemolysis.

    Hereditary Spherocytosis

    • A peripheral blood smear is crucial to identify hereditary spherocytosis.

    Thrombotic Events

    • Polycythaemia vera increases the risk of thrombotic events.

    von Willebrand Disease

    • Mucosal bleeding is the primary clinical feature of von Willebrand disease.

    Coagulation Factor Synthesis

    • Vitamin K is crucial for the synthesis of clotting factors II, VII, IX, and X.

    Complete Blood Count (CBC) Anticoagulant

    • EDTA is a common anticoagulant used for CBC blood collection tubes.

    Heinz Bodies

    • Heinz bodies are typically seen in G6PD deficiency.

    Schistocytes

    • Schistocytes (fragmented red blood cells) indicate mechanical damage to red blood cells, such as disseminated intravascular coagulation (DIC).

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    BS-section A MQS study PDF

    Description

    Test your knowledge on various conditions related to anaemia and blood disorders. This quiz covers topics such as Pyruvate Kinase Deficiency, pernicious anaemia, Thalassaemia, and the role of EPO. Challenge yourself with questions on genetics, laboratory tests, and clinical features of leukaemia.

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