MRCP UK EXAMINATIONS

Detailed explanation-1: -Sickle cell anemia, Hb SC disease, or combinations of the sickle cell gene with forms of thalassemia can all be identified by hemoglobin electrophoresis and can be confirmed by a family study.

Detailed explanation-2: -The hemoglobinopathies are a group of disorders passed down through families (inherited) in which there is abnormal production or structure of the hemoglobin molecule. Sickle cell disease (SCD) is one such blood disorder caused by the abnormal hemoglobin that damages and deforms red blood cells.

Detailed explanation-3: -To be born with the main type of thalassaemia, beta thalassaemia, a child has to inherit a copy of the faulty beta thalassaemia gene from both of their parents. This usually happens when both parents are “carriers” of the faulty gene, also known as having the “thalassaemia trait".