Radiology Cases Sickle Cell Anaemia and the Skeleton LSBU

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. A combination of Sickle cell with Haemoglobin A is reputed to confer some evolutionary advantage, if you live in an area, endemic for Falciparum Malaria, and is only an embarassment if you have severe anoxia or develop renal problems. Homozygous sickle-cell or a combination of Sickle and haemoglobin C, or Beta thalassaemia have a higher risk of bone disease.