Young: Medical Genetics - Extended Matching Questions

Table of Contents

1. Chapter 1
   1. Question 1
   2. Question 2
2. Chapter 2
   1. Question 1
   2. Question 2
3. Chapter 3
   1. Question 1
   2. Question 2
4. Chapter 4
   1. Question 1
   2. Question 2
5. Chapter 5
   1. Question 1
   2. Question 2
6. Chapter 6
   1. Question 1
   2. Question 2
7. Chapter 7
   1. Question 1
   2. Question 2
8. Chapter 8
   1. Question 1
   2. Question 2
9. Chapter 9
   1. Question 1
   2. Question 2
10. Chapter 10
    1. Question 1
    2. Question 2
11. Chapter 11
    1. Question 1
    2. Question 2
12. Chapter 12
    1. Question 1
    2. Question 2
13. Chapter 13
    1. Question 1
    2. Question 2
14. Chapter 14
    1. Question 1
    2. Question 2

Question 2

Instructions: Each group of extended matching questions consists of lettered options followed by a list of numbered problems/questions. For each numbered problem/question select the one lettered option that is most closely answers the question. You can use the lettered options once, more than once, or not at all.

Theme: Haemoglobinopathies

Options:

1. Alpha-thalassaemia
2. Beta-thalassaemia
3. Haemoglobin S/C disease
4. Hereditary persistence of fetal haemoglobin (HPFH)
5. Sickle cell disease

Each of the following patients has an inherited anaemia due to mutation(s) in globin genes. Select the relevant diagnosis from the available options.

1

Scenario 1   A 27-year-old man who is essentially asymptomatic, although his blood shows very low levels of both forms of adult haemoglobin. Choose... Alpha-thalassaemia Beta-thalassaemia Haemoglobin S/C disease Hereditary persistence of fetal haemoglobin (HPFH) Sickle cell disease HPFH is a remarkable condition caused by persistent expression of the γ-globin genes in individuals who have either a deletion or failure of expression of the closely adjacent δ- and β-globin genes. See Page 163.Incorrect. See Page 163.Your answer has been saved.

2

Scenario 2   A stillborn female infant with hydrops fetalis, severe anaemia and complete absence of fetal haemoglobin. Choose... Alpha-thalassaemia Beta-thalassaemia Haemoglobin S/C disease Hereditary persistence of fetal haemoglobin (HPFH) Sickle cell disease This is the most severe presentation of α-thalassaemia, caused by loss of all 4 α-globin genes. See Page 159.Incorrect. See Page 159.Your answer has been saved.

3

Scenario 3   A 5-year-old boy with jaundice and severe haemolytic anaemia who is admitted with severe abdominal and limb pain. Choose... Alpha-thalassaemia Beta-thalassaemia Haemoglobin S/C disease Hereditary persistence of fetal haemoglobin (HPFH) Sickle cell disease The history of severe abdominal and limb pain is very suggestive of a sickle cell crisis. The jaundice is caused by haemolysis. See Page 159.Incorrect. See Page 159.Your answer has been saved.

4

Scenario 4   A 2-year-old girl with severe anaemia who is failing to thrive. Her blood film shows hypochromia and microcytosis. Haemoglobin electrophoresis shows absence of adult (HbA) haemoglobin. Choose... Alpha-thalassaemia Beta-thalassaemia Haemoglobin S/C disease Hereditary persistence of fetal haemoglobin (HPFH) Sickle cell disease The blood film is typical of that seen in children with severe β-thalassaemia, in which failure of β-globin gene expression means that the child cannot produce β-chains for HbA synthesis. See Page 161.Incorrect. See Page 161.Your answer has been saved.

5

Scenario 5   A 20-year-old man with relatively mild anaemia who is admitted with retinal artery occlusion. Choose... Alpha-thalassaemia Beta-thalassaemia Haemoglobin S/C disease Hereditary persistence of fetal haemoglobin (HPFH) Sickle cell disease The history of retinal artery occlusion is suggestive of Haemoglobin S/C disease, although other relatively mild forms of sickle cell disease can present in this way. See Page 164.Incorrect. See Page 164.Your answer has been saved.