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  • Question 1 - An enlarged lymph node which shows well-defined, prominent paracortical follicles with germinal centres...

    Correct

    • An enlarged lymph node which shows well-defined, prominent paracortical follicles with germinal centres is most likely from which of the following patients?

      Your Answer: A 5-year-old boy with a sore throat and runny nose

      Explanation:

      Lymphadenopathy is common in children and is usually reactive in nature. The description fits that of a benign, reactive lymph node.

    • This question is part of the following fields:

      • Haematology
      • Pathology
      90.8
      Seconds
  • Question 2 - Which of the following is the most likely cause of prolonged thrombin clotting...

    Incorrect

    • Which of the following is the most likely cause of prolonged thrombin clotting time?

      Your Answer: Warfarin therapy

      Correct Answer: Hypofibrinogenemia

      Explanation:

      Thrombin clotting time, also called thrombin time (TT), is test used for the investigation of possible bleeding or clotting disorders. TT reflects the conversion of fibrinogen to fibrin and it’s also very sensitive to the presence of the anticoagulant heparin. A prolonged thrombin time may indicate the presence of hypofibrinogenemia (decreased fibrinogen level ), dysfibrinogenaemia, disseminated intravascular coagulation (DIC), end stage liver disease or malnutrition.

    • This question is part of the following fields:

      • Haematology
      • Pathology
      56
      Seconds
  • Question 3 - A Jewish man was diagnosed with haemophilia C. Which of the following factors...

    Incorrect

    • A Jewish man was diagnosed with haemophilia C. Which of the following factors is deficient in this form of haemophilia?

      Your Answer: Factor XII

      Correct Answer: Factor XI

      Explanation:

      Haemophilia C, also known as plasma thromboplastin antecedent (PTA) deficiency or Rosenthal syndrome, is a condition caused by the deficiency of the coagulation factor XI. The condition is rare and it is usually found in Ashkenazi Jews.

    • This question is part of the following fields:

      • Haematology
      • Pathology
      53.3
      Seconds
  • Question 4 - A 30-year-old woman known with Von Willebrand disease (vWD) has to undergo surgery....

    Incorrect

    • A 30-year-old woman known with Von Willebrand disease (vWD) has to undergo surgery. Which of these complications is most unlikely in this patient?

      Your Answer: Excessive bleeding

      Correct Answer: Hemarthrosis

      Explanation:

      Von Willebrand disease (vWD) is an inherited haemorrhagic disorder characterised by the impairment of primary haemostasis. It is caused by the deficiency or dysfunction of a protein named von Willebrand factor. The most common manifestation due to the condition is abnormal bleeding. Complications include easy bruising, hematomas, epistaxis, menorrhagia, prolonged bleeding and severe haemorrhage. Hemarthrosis is a complication that is more commonly found in haemophilia.

    • This question is part of the following fields:

      • Haematology
      • Pathology
      46.4
      Seconds
  • Question 5 - A 40-year old lady presented to the hospital with fever and mental confusion...

    Correct

    • A 40-year old lady presented to the hospital with fever and mental confusion for 1 week. On examination, she was found to have multiple petechiae all over her skin and mucosal surfaces. Blood investigations revealed low platelet count and raised urea and creatinine. A platelet transfusion was carried out, following which she succumbed to death. Autopsy revealed pink hyaline thrombi in myocardial arteries. What is the likely diagnosis?

      Your Answer: Thrombotic thrombocytopenic purpura

      Explanation:

      Hyaline thrombi are typically associated with thrombotic thrombocytopenic purpura (TTP), which is caused by non-immunological destruction of platelets. Platelet transfusion is contraindicated in TTP. Platelets and red blood cells also get damaged by loose strands of fibrin deposited in small vessels. Multiple organs start developing platelet-fibrin thrombi (bland thrombi with no vasculitis) typically at arteriocapillary junctions. This is known as ‘thrombotic microangiopathy’. Treatment consists of plasma exchange.

    • This question is part of the following fields:

      • Haematology
      • Pathology
      41.7
      Seconds
  • Question 6 - The absence of which of the following components characterizes the grey platelet syndrome...

    Incorrect

    • The absence of which of the following components characterizes the grey platelet syndrome (GPS)?

      Your Answer: Lysosomes

      Correct Answer: Alpha granules

      Explanation:

      Grey platelet syndrome (GPS) is a rare inherited bleeding disorder associated with an almost total absence of α-granules and their contents. The syndrome is characterised by thrombocytopenia, enlarged platelets that have a grey appearance, myelofibrosis, and splenomegaly. Alpha granules store proteins and growth factors that promote platelet adhesiveness and wound healing. Patients with GPS develop symptoms and signs such as easy bruising, prolonged bleeding, and nose bleeds.

    • This question is part of the following fields:

      • Haematology
      • Pathology
      11.4
      Seconds
  • Question 7 - Coagulation in the body (in vivo) is a process in which several proteins...

    Incorrect

    • Coagulation in the body (in vivo) is a process in which several proteins known as coagulation factors are activated in a cascade effect to stop bleeding. Which of the following initiates this cascade effect?

      Your Answer: Factor VII

      Correct Answer: Tissue factor

      Explanation:

      Tissue factor (TF), also known as ‘factor III’ or ‘thromboplastin’, is an anti-coagulation protein that initiates the extrinsic coagulation. TF acts as a transmembrane receptor for Factor VII/VIIa . It is expressed by endothelial cells but also certain tissues, such as the heart and brain.

    • This question is part of the following fields:

      • Haematology
      • Pathology
      38.8
      Seconds
  • Question 8 - Investigations in a 40-year old gentleman with splenomegaly reveal the following: haemoglobin 21.5...

    Incorrect

    • Investigations in a 40-year old gentleman with splenomegaly reveal the following: haemoglobin 21.5 g/dl, haematocrit 66%, mean corpuscular volume (MCV) 86 fl, mean cell haemoglobin concentration 34 g/dl, mean corpuscular haemoglobin 34.5 pg, platelet count 450 × 109/l, and white blood cell count 12 × 109/l, with 81% polymorphonuclear leukocytes, 4% bands, 3% monocytes, and 7% lymphocytes.

      What is the likely diagnosis?

      Your Answer: Chronic myelogenous leukaemia

      Correct Answer: Polycythaemia vera

      Explanation:

      The markedly increased haematocrit, along with thrombocytosis and the leucocytosis suggest a myeloproliferative disorder.

      Polycythaemia vera is the commonest myeloproliferative disorders occurring more often in males (about 1.4 to 1). The mean age at diagnosis is 60 years (range 15–90 years) with 5% of patients below 40 years at onset. It involves increased production of all cell lines, including red blood cells (independent of erythropoietin), white blood cells and platelets. If confined only to red blood cells, it is known as ‘primary erythrocytosis’. There is an increase in blood volume and hyperviscosity occurs, predisposing to thrombosis. Increased bleeding occurs due to abnormal functioning of platelets. Patients become hypermetabolic, and increased cell turnover leads to hyperuricaemia.

      Usually asymptomatic, occasionally symptoms include weakness, pruritus, headache, light-headedness, visual disturbances, fatigue and dyspnoea. Face appears red with engorged retinal veins. Lower extremities appear red and painful, along with digital ischaemia (erythromelalgia). Hepatomegaly is common and massive splenomegaly is seen in 75% patients. Thrombosis can lead to stroke, deep venous thrombosis, myocardial infarction, retinal artery or vein occlusion, splenic infarction (often with a friction rub) or Budd–Chiari syndrome. Gastrointestinal bleeding is seen in 10-20% patients. Hypermetabolism can lead to low-grade fevers and weight loss. Late features include complications of hyperuricaemia (e.g. gout, renal calculi). 1.5% to 10% cases transform to acute leukaemia.

    • This question is part of the following fields:

      • Haematology
      • Pathology
      259.8
      Seconds
  • Question 9 - Which of the following over-the-counter drugs can cause a prolonged bleeding time? ...

    Correct

    • Which of the following over-the-counter drugs can cause a prolonged bleeding time?

      Your Answer: Acetylsalicylic acid

      Explanation:

      Acetylsalicylic acid, or aspirin, is a nonsteroidal anti-inflammatory drug that is widely used as an analgesic and antipyretic. Aspirin is as a cyclo-oxygenase inhibitor that leads to decreased prostaglandin production. Decreased platelet aggregation is another effect of this drug, achieved by long-lasting use of aspirin.

    • This question is part of the following fields:

      • Haematology
      • Pathology
      13.4
      Seconds
  • Question 10 - Elevated mean corpuscular volume with hypersegmented neutrophils and low reticulocyte index is seen...

    Incorrect

    • Elevated mean corpuscular volume with hypersegmented neutrophils and low reticulocyte index is seen in on the blood count of a middle-aged lady about to undergo elective surgery. On enquiry, she mentions feeling tired for a few months. Which of the following investigations should be carried out in her to reach a diagnosis?

      Your Answer: Serum ferritin

      Correct Answer: Serum vitamin B12 and folate

      Explanation:

      Elevated levels of MCV indicates megaloblastic anaemia, which are associated with hypersegmented neutrophils. Likely causes include vitamin B12 or folate deficiency. Megaloblastic anaemia results from defective synthesis of DNA. As RNA production continues, the cells enlarge with a large nucleus. The cytoplasmic maturity becomes greater than nuclear maturity. Megaloblasts are produced initially in the marrow, before blood. Dyspoiesis makes erythropoiesis ineffective, causing direct hyperbilirubinemia and hyperuricemia. As all cell lines are affected, reticulocytopenia, thrombocytopenia and leukopenia develop. Large, oval blood cells (macro-ovalocytes) are released in the circulation, along with presence of hypersegmented neutrophils.

    • This question is part of the following fields:

      • Haematology
      • Pathology
      149.9
      Seconds
  • Question 11 - Which of the following coagulation factors cross-links fibrin? ...

    Correct

    • Which of the following coagulation factors cross-links fibrin?

      Your Answer: Factor XIII

      Explanation:

      Factor XIII, also known as fibrin stabilizing factor, is an enzyme of the coagulation cascade that crosslinks fibrin. Deficiency of FXIII may cause bleeding tendency but paradoxically, it may also predispose to thrombosis.

    • This question is part of the following fields:

      • Haematology
      • Pathology
      10.9
      Seconds
  • Question 12 - A 50-year old gentleman who was admitted for elective surgery was found to...

    Incorrect

    • A 50-year old gentleman who was admitted for elective surgery was found to have haemoglobin 9.5 g/dl, white blood cell count of 1.4 × 109/l and a mean corpuscular volume (MCV) of 134 fl. Which of the following is the likely finding on his peripheral blood smear?

      Your Answer: Blasts

      Correct Answer: Hypersegmented neutrophils

      Explanation:

      The likely diagnosis is megaloblastic anaemia, which also shows the presence of hypersegmented neutrophils.

    • This question is part of the following fields:

      • Haematology
      • Pathology
      108.9
      Seconds
  • Question 13 - A 58-year-old woman diagnosed with deep vein thrombosis had been using warfarin for...

    Correct

    • A 58-year-old woman diagnosed with deep vein thrombosis had been using warfarin for 10 days. When she presented to the doctor she had haemorrhagic bullae and necrotic lesions in her lower limbs and buttocks. Deficiency of which of the following proteins may have caused the necrotic skin lesions?

      Your Answer: Protein C

      Explanation:

      Warfarin-induced skin necrosis is a rare complication of anticoagulant therapy that requires immediate drug cessation. The most common cutaneous findings include petechiae that progress to ecchymoses and haemorrhagic bullae. Warfarin inactivates vitamin K-dependent clotting factors II, VII, IX, and X and vitamin K-dependent proteins C and S. The concentration of protein C falls more rapidly than other vitamin K-dependent factors because they have a shorter half-lives. Skin necrosis is seen mainly in patients with prior protein C deficiency.

    • This question is part of the following fields:

      • Haematology
      • Pathology
      35.2
      Seconds
  • Question 14 - A 35-year old lady presents to her GP with vague abdominal symptoms. Examination...

    Incorrect

    • A 35-year old lady presents to her GP with vague abdominal symptoms. Examination reveals a normal size spleen. Which of the following is the likely diagnosis?

      Your Answer: Sickle cell anaemia

      Correct Answer: Idiopathic thrombocytopenic purpura

      Explanation:

      Idiopathic thrombocytopenic purpura (ITP) is a disease caused due to development of an antibody against a platelet antigen (autoantibody). In childhood disease, the autoantibody gets triggered by binding of viral antigen to the megakaryocytes. Presentation includes unexplained thrombocytopenia, petechiae and bleeding from mucosal surfaces. The spleen usually does not enlarge in size. However, splenomegaly can occur due to coexisting viral infection. Marrow examination reveals normal or increased number of megakaryocytes. Diagnosis is by exclusion of other thrombocytopenic disorders.

    • This question is part of the following fields:

      • Haematology
      • Pathology
      25.2
      Seconds
  • Question 15 - A patient presented with continuous bleeding several hours after dental extraction. Which of...

    Incorrect

    • A patient presented with continuous bleeding several hours after dental extraction. Which of the following findings is most often associated with clinical bleeding?

      Your Answer: Prekallikrein deficiency

      Correct Answer: Factor IX deficiency

      Explanation:

      Factor IX deficiency, also called Haemophilia B or Christmas disease, is a disorder caused by missing or defective clotting factor IX. Deficiency of the factor IX causes irregular bleeding that can happen spontaneously or after mild trauma, surgery and dental extractions.

    • This question is part of the following fields:

      • Haematology
      • Pathology
      26.7
      Seconds
  • Question 16 - A 24-year-old patient with recurrent episodes of deep vein thrombosis presents again to...

    Correct

    • A 24-year-old patient with recurrent episodes of deep vein thrombosis presents again to the clinic. Deficiency of which of the following blood proteins is the most probable cause of this episode?

      Your Answer: Antithrombin III

      Explanation:

      Antithrombin III (ATIII) is a blood protein that acts by inhibiting blood coagulation by neutralizing the enzymatic activity of thrombin.

      Antithrombin III deficiency is an autosomal dominant disorder that leads to an increased risk of venous and arterial thrombosis. Clinical manifestations typically appear in young adulthood.

    • This question is part of the following fields:

      • Haematology
      • Pathology
      50.4
      Seconds
  • Question 17 - From which of the following cells is heparin produced? ...

    Incorrect

    • From which of the following cells is heparin produced?

      Your Answer: Hepatocytes

      Correct Answer: Mast cells

      Explanation:

      Heparin is a natural highly-sulphated glycosaminoglycan that has anticoagulant functions. It is produced by the body basophils and mast cells.

    • This question is part of the following fields:

      • Haematology
      • Pathology
      10
      Seconds
  • Question 18 - For which of the following is NOT screened for in blood for transfusion?...

    Correct

    • For which of the following is NOT screened for in blood for transfusion?

      Your Answer: EBV

      Explanation:

      Blood for transfusion is routinely screened for hepatitis B and C, HIV, CMV and syphilis.

    • This question is part of the following fields:

      • Haematology
      • Pathology
      210.6
      Seconds
  • Question 19 - Blood investigations of a patient with vitamin K deficiency revealed a prolonged prothrombin...

    Correct

    • Blood investigations of a patient with vitamin K deficiency revealed a prolonged prothrombin time. This coagulation abnormality is most probably due to:

      Your Answer: Factor VII deficiency

      Explanation:

      Factor VII deficiency is a bleeding disorder caused by a deficiency or reduced activity of clotting factor VII. It may be inherited or acquired at some point during life. Inherited factor VII deficiency is an autosomal recessive disorder caused by mutations of the F7 gene. Factor VII is vitamin K-dependent, as are Factors II, IX and X and therefore lack of this vitamin can cause the development of acquired factor VII deficiency. Other causes of acquired deficiency of this factor include liver disease, sepsis and warfarin therapy.

    • This question is part of the following fields:

      • Haematology
      • Pathology
      26.7
      Seconds
  • Question 20 - Skin infiltration by neoplastic T lymphocytes is seen in: ...

    Correct

    • Skin infiltration by neoplastic T lymphocytes is seen in:

      Your Answer: Mycosis fungoides

      Explanation:

      Mycosis fungoides is a chronic T-cell lymphoma that involves the skin and less commonly, the internal organs such as nodes, liver, spleen and lungs. It is usually diagnosed in patients above 50 years and the average life expectancy is 7-10 years. It is insidious in onset and presents as a chronic, itchy rash, eventually spreading to involve most of the skin. Lesions are commonly plaque-like, but can be nodular or ulcerated. Symptoms include fever, night sweats and weight loss. Skin biopsy is diagnostic. However, early cases may pose a challenge due to fewer lymphoma cells. The malignant cells are mature T cells (T4+, T11+, T12+). The epidermis shows presence of characteristic Pautrier’s micro abscesses are present in the epidermis.

    • This question is part of the following fields:

      • Haematology
      • Pathology
      9.4
      Seconds
  • Question 21 - Reed-Sternberg cells are characteristic of: ...

    Incorrect

    • Reed-Sternberg cells are characteristic of:

      Your Answer: B-cell lymphoma

      Correct Answer: Hodgkin's lymphoma

      Explanation:

      Reed-Sternberg cells are characteristic of Hodgkin’s lymphoma.

    • This question is part of the following fields:

      • Haematology
      • Pathology
      12.3
      Seconds
  • Question 22 - Laboratory findings in a patient with dark urine and yellowish skin revealed a...

    Correct

    • Laboratory findings in a patient with dark urine and yellowish skin revealed a prolonged prothrombin time. Which of the following is the most likely cause of this finding?

      Your Answer: Liver damage

      Explanation:

      Various conditions may prolong the prothrombin time (PT), including: warfarin use, vitamin K deficiency, liver disease, disseminated intravascular coagulopathy, hypofibrinogenemia, heparin infusion, massive blood transfusion and hypothermia. Liver disease causes prolonging of PT due to diminished synthesis of clotting factors. Dark urine colour and jaundice are indicators of the presence of a liver disease in this patient.

    • This question is part of the following fields:

      • Haematology
      • Pathology
      22.8
      Seconds
  • Question 23 - Which of the following coagulation factors is responsible for the formation of a...

    Correct

    • Which of the following coagulation factors is responsible for the formation of a complex with tissue factor to activate factors IX and X?

      Your Answer: Factor VII

      Explanation:

      Factor VII, also known as proconvertin or stable factor, is a vitamin K–dependent protein that plays a central role in haemostasis and coagulation. Tissue factor is a protein that is normally not exposed on the surface of intact blood vessels. Damage to the vascular lumen leads to tissue factor exposure. The exposed tissue factor binds to factor VII. This facilitates the activation of factor VII to factor VIIa.

    • This question is part of the following fields:

      • Haematology
      • Pathology
      15.6
      Seconds
  • Question 24 - A 17-year-old boy, who had developed shortness of breath and a loss of...

    Incorrect

    • A 17-year-old boy, who had developed shortness of breath and a loss of appetite over the last month, was referred to a haematologist because he presented with easy bruising and petechiae. His prothrombin time, platelet count, partial thromboplastin and bleeding time were all normal. Which of the following would explain the presence of the petechiae and easy bruising tendency?

      Your Answer: von Willebrand’s disease

      Correct Answer: Scurvy

      Explanation:

      Scurvy is a condition caused by a dietary deficiency of vitamin C, also known as ascorbic acid. Humans are unable to synthesize vitamin C, therefore the quantity of it that the body needs has to come from the diet. The presence of an adequate quantity of vitamin C is required for normal collagen synthesis. In scurvy bleeding tendency is due to capillary fragility and not coagulation defects, therefore blood tests are normal.

    • This question is part of the following fields:

      • Haematology
      • Pathology
      44.5
      Seconds
  • Question 25 - A 50-year old lady presented to the clinic with chronic pain in the...

    Correct

    • A 50-year old lady presented to the clinic with chronic pain in the abdomen. On physical examination, she was found to be pale. Further investigations revealed a decrease in both serum iron and total iron-binding capacity, along with an increase in serum ferritin. These findings are seen in:

      Your Answer: Anaemia of chronic disease

      Explanation:

      Anaemia of chronic disease is characterized by low serum iron, iron-binding capacity and saturation with increased ferritin (storage iron). Haemolytic anaemia is characterized by normal iron levels as the haemoglobin released from the haemolysed red blood cells is recycled. Anaemia due to chronic blood loss leads to low serum iron, low ferritin and high total iron-binding capacity (TIBC). Malabsorption, especially with duodenal involvement can also lead to iron deficiency anaemia with low ferritin and high TIBC. Megaloblastic anaemia due to vitamin B12 and folate deficiency is not associated with abnormalities in metabolism of iron.

    • This question is part of the following fields:

      • Haematology
      • Pathology
      37
      Seconds
  • Question 26 - A 20-year old boy presented with low grade fever, night sweats and weakness...

    Correct

    • A 20-year old boy presented with low grade fever, night sweats and weakness over two months. On examination, he had multiple, non-tender, cervical, supraclavicular and axillary adenopathy. Microscopy of lymph node biopsy showed the presence of Reed-Sternberg cells. He is likely suffering from:

      Your Answer: Hodgkin’s lymphoma

      Explanation:

      Hodgkin’s lymphoma is a disease characterized by malignant proliferation of cells of the lymphoreticular system. It can be localized or disseminated, and can involve the nodes, spleen, liver and marrow. Symptoms of the disease include non-tender lymphadenopathy, fever, night sweats, weight loss, itching and hepatosplenomegaly. Histologically, the involved nodes show the presence of Reed-Sternberg cells, which are large, binucleated cells, in a heterogenous cellular infiltrate of histiocytes, lymphocytes, monocytes, plasma cells and eosinophils.

    • This question is part of the following fields:

      • Haematology
      • Pathology
      30.8
      Seconds
  • Question 27 - A 63-year old lady presents with pain in multiple bones and renal failure....

    Correct

    • A 63-year old lady presents with pain in multiple bones and renal failure. On enquiry, there is history of recurrent pneumonia in the past. What will be the likely finding on her bone marrow biopsy?

      Your Answer: Plasma cells

      Explanation:

      Multiple myeloma is a plasma cell malignancy that produce excessive monoclonal immunoglobulins. The disease presents with bone pains, renal dysfunction, increased calcium, anaemia and recurrent infections. Diagnosis is by demonstrating the presence of M-protein in urine or serum, lytic bone lesions, light chain proteinuria or excessive plasma cells on marrow biopsy.

    • This question is part of the following fields:

      • Haematology
      • Pathology
      46.2
      Seconds
  • Question 28 - A 36-year old gentleman with a history of cough for 4 weeks came...

    Correct

    • A 36-year old gentleman with a history of cough for 4 weeks came to the hospital. Examination revealed multiple lymphadenopathy with splenomegaly. Investigations revealed haemoglobin 11 g/dl, haematocrit 32.4%, mean corpuscular volume (MCV) 93 fl, white blood cell count 63 × 109/l, and platelet count 39 × 109/l; along with characteristic Auer rods on peripheral blood smear. What is the likely diagnosis?

      Your Answer: Acute myelogenous leukaemia (AML)

      Explanation:

      AML, or acute myeloid leukaemia is the commonest acute leukaemia affecting adults. increasing in incidence with age. It is a malignancy of the myeloid line of white blood cells. It results in rapid proliferation of abnormal cells, which accumulate in the marrow. Interference with normal cell production leads to a drop in red blood cells, white blood cells and platelets. This causes symptoms such as tiredness, shortness of breath, tendency to bleed or bruise easily and recurrent infections. AML is known to progress quickly and can lead to death in weeks and months if not treated. Leukemic blasts of AML show presence of Auer rods. These are clumps of azurophilic granular material that form needles in the cytoplasm. Composed of fused lysosomes, these contain peroxidase, lysosomal enzymes and crystalline inclusions. Auer rods are classically present in myeloid blasts of M1, M2, M3 and M4 acute leukaemia. They also help to distinguish the preleukemia myelodysplastic syndromes.

    • This question is part of the following fields:

      • Haematology
      • Pathology
      156.1
      Seconds
  • Question 29 - Which of the following is the most likely cause of massive splenomegaly in...

    Incorrect

    • Which of the following is the most likely cause of massive splenomegaly in a 35-year old gentleman?

      Your Answer: Sickle cell anaemia

      Correct Answer: Myelofibrosis

      Explanation:

      Causes of massive splenomegaly include chronic myelogenous leukaemia, chronic lymphocytic leukaemia, lymphoma, hairy cell leukaemia, myelofibrosis, polycythaemia vera, sarcoidosis, Gaucher’s disease and malaria.

    • This question is part of the following fields:

      • Haematology
      • Pathology
      57.4
      Seconds
  • Question 30 - Which of the following conditions is likely to result in splenomegaly, hypochromic anaemia...

    Incorrect

    • Which of the following conditions is likely to result in splenomegaly, hypochromic anaemia and hemochromatosis in a young male?

      Your Answer: Hereditary spherocytosis

      Correct Answer: β-Thalassaemia

      Explanation:

      Beta-thalassaemia is due to decreased production of β-polypeptide chains, with an autosomal inheritance pattern. Carrier patients (heterozygotes) are asymptomatic and have mild to moderate microcytic anaemia. This is known as thalassaemia minor. Homozygotes (β-thalassaemia major, or Cooley’s anaemia) develop severe anaemia and marrow hyperactivity. The disease presents at 1-2 years of age with severe anaemia and transfusional and absorptive iron overload. Patients also present with jaundice, leg ulcers, massive splenomegaly and cholelithiasis. The disease can also lead to splenic sequestration leading to faster destruction of transfused red blood cells. Increased marrow activity causes thickening of cranial bones. Involvement of long bones is also seen, which can cause pathological fractures and growth impairment. There is iron deposition in various organs, which can lead to heart failure or hepatic failure (leading to cirrhosis). Thalassaemias are suspected in presence of family history, or signs suggesting microcytic haemolytic anaemia. Further test and quantitative haemoglobin studies are useful. In beta-thalassaemia, there is an increase in serum bilirubin, iron and ferritin levels. There is severe anaemia, often with haemoglobin < 6 g/dl. There is an elevated red blood cell count, which are microcytic. Peripheral blood smear is diagnostic with nucleated erythroblasts, target cells, small pale red blood cells, and punctate basophilia.

    • This question is part of the following fields:

      • Haematology
      • Pathology
      34
      Seconds

SESSION STATS - PERFORMANCE PER SPECIALTY

Haematology (15/30) 50%
Pathology (15/30) 50%
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