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Haemoglobinopathies Quiz
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Which of the following best defines a haemoglobinopathy?
- A An inherited disorder caused by abnormal structure or production of haemoglobin You picked ✓
- B An autoimmune destruction of red blood cells leading to anaemia You picked ✕
- C A disorder of white blood cell production affecting oxygen delivery You picked ✕
- D An acquired reduction in haemoglobin concentration due to iron deficiency You picked ✕
- E A condition caused by reduced erythropoietin secretion from the kidney You picked ✕
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The answer is A: An inherited disorder caused by abnormal structure or production of haemoglobin
Explanation
Why A is correct
See What is a Haemoglobinopathy?. Option A is correct. A haemoglobinopathy is an inherited (genetic) disorder of haemoglobin, usually inherited in an autosomal recessive pattern, which means a child needs a faulty copy of the gene from both parents to be affected. The fault lies in the globin genes, and there are two ways it shows itself. In a structural haemoglobinopathy the haemoglobin molecule has an abnormal shape, as in sickle cell disease. In the thalassaemias the structure is usually normal but too little of one globin chain is made. Either way, the blood carries oxygen less well, and the patient has the symptoms of anaemia, such as tiredness, breathlessness and pallor. The two commonest haemoglobinopathies worldwide are thalassaemia and sickle cell disease. The word to hold onto is inherited: if the haemoglobin is normal and the problem comes from nutrition, immunity, the kidney or blood loss, then it is not a haemoglobinopathy, however much it looks like anaemia.
- Definition: An inherited disorder of haemoglobin, usually autosomal recessive.
- Structural type: The haemoglobin molecule has an abnormal shape, as in sickle cell disease.
- Thalassaemias: The structure is usually normal but too little of one globin chain is made.
- Commonest: Thalassaemia and sickle cell disease are the two commonest worldwide.
Why the other options are incorrect
- B. An autoimmune destruction of red blood cells leading to anaemia: Autoimmune haemolytic anaemia is destruction of red cells by antibodies. The haemoglobin is normal, so it is an acquired immune disorder and not a haemoglobinopathy. Your answer
- C. A disorder of white blood cell production affecting oxygen delivery: Disorders of white cell production affect immunity, not oxygen delivery. Haemoglobinopathies concern the haemoglobin inside red cells. Your answer
- D. An acquired reduction in haemoglobin concentration due to iron deficiency: Iron deficiency anaemia is acquired, usually through blood loss or poor intake, and the haemoglobin molecule itself is normal in structure. A haemoglobinopathy is a genetic fault in the haemoglobin molecule or the globin chains. Your answer
- E. A condition caused by reduced erythropoietin secretion from the kidney: Reduced erythropoietin from the kidney lowers the number of red cells produced but leaves the haemoglobin structure intact. It is a cause of anaemia in kidney disease, not a haemoglobinopathy. Your answer
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More questions from this set. Start the quiz to answer them and see each explanation.
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1
Which statement best describes the genetic basis of α‑thalassaemia?
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2
Which statement best explains how haemoglobin is able to bind and transport oxygen in the blood?
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