Haemoglobinopathies Quiz

See Section. Option A is correct. A haemoglobinopathy is an inherited disorder of haemoglobin structure or production. Haemoglobin is made from globin chains containing iron-bearing haem groups, and changes to globin genes can affect how those chains work or how much is made. Sickle cell disease illustrates an abnormal structure, whereas thalassaemia illustrates reduced chain production. The consequences range from a clinically silent carrier state to significant anaemia and other complications. A low haemoglobin concentration is therefore not required in every person with a haemoglobin variant or carrier state. The defining link is to the inherited haemoglobin abnormality rather than simply to any anaemia.

Acquired iron deficiency (D) restricts haemoglobin synthesis without being an inherited globin disorder. White-cell production (C) concerns a different cell population and does not define oxygen-carrying haemoglobin. Reduced renal EPO (E) limits red-cell production by weakening the marrow stimulus. Autoimmune haemolysis (B) destroys existing red cells through antibodies rather than an inherited haemoglobin defect.