Sickle Cell Anaemia

Description: Sickle cell disease is one of the more common abnormalities of haemoglobin. The single substitution of valine for glutamic acid alters the folding of the protein and its response to deoxygenation. The inheritance is autosomal dominent, but generally the disease is more severe in homozygous individuals. Other haemoglobinopathies may affect the expression of Sickle cell bone disease. The combination of Sickle and haemoglobin C, or B, thalassaemia have a higher risk of bone disease. Radiology Museum