The haemoglobinopathies are a relatively common, heterogeneous group of inherited conditions that are the result of either a quantitative abnormality (e.g. thalassaemia) or structural [e.g. sickle cell anaemia (SCA)] of the globin part of the haemoglobin molecule. Musculoskeletal (MSK) complications are common in patients with haemoglobinopathies and may affect the whole of the MSK system, in addition to bone, which is the primary site of the disease. Typical MSK complications include painful vaso-occlusive disease and osteomyelitis in SCA and reduced BMD in thalassaemia. Patients may also develop a number of related (e.g. gout) or unrelated rheumatic diseases (e.g. inflammatory arthritis and autoimmune CTDs). Treatment of MSK conditions in patients with haemoglobinopathies may be challenging (e.g. bone marrow suppression from disease-modifying agents) and in particular in SCA, steroid therapy (by any route) may precipitate potentially severe vaso-occlusive complications. Rheumatologists need to be aware of the range of MSK complications, treatment challenges and the need for such patients to be managed as part of a dedicated multidisciplinary team alongside haematology.
Keywords: arthritis; bone; gout; haemoglobinopathies; infection; muscle; musculoskeletal; sickle cell anaemia; sickle cell disease; thalassaemia.
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