Maria Fernanda Carpintero

Hemoglobinopathies are inherited diseases caused by mutations in globin genes. Thalassemias are inherited defects in globin chain synthesis resulting in hypochromia and microcytosis. Skeletal changes in thalassemias can result in cortical thinning, osteoporosis, and vertebral compression fractures. Sickle cell disease is a single gene disorder caused by homozygous inheritance for sickle cell hemoglobin. Vaso-occlusive crises of bone occur in people with sickle cell disease and result in severe pain at the site of bony infarction, typically of long bones. The index of suspicion for septic arthritis should be high in sickle cell disease patients who present with fever and joint pain. Hyperuricemia can be seen in those with sickle cell disease and thalassemias, but gout is uncommon.