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Ankyrin defect
4%
4/108
Decreased glutathione production in red blood cells
3%
3/108
Complement mediated red blood cell lysis
2%
2/108
Mutation in hemoglobin ß-chain
83%
90/108
Lead poisoning
5%
5/108
Select Answer to see Preferred Response
This boy is presenting with dactylitis, which is a common complication of sickle cell anemia. Sickle cell anemia is due to a mutation in the hemoglobin ß-chain. Sickle cell anemia is an autosomal recessive disorder due to a mutation in the hemoglobin ß-chain in which a Glu to Val substitution occurs at position 6. The disorder is commonly seen in African American individuals. Sickle cell anemia can present with a number of different vaso-occlusive crises, and symptoms may include chest pain, bone pain, fever, stroke, priapism, or abdominal pain. Dactylitis, which involves painful swelling of the hands and feet, occurs in up to 50% of children with sickle cell anemia under 3 years of age. Junnila and Cartwright review causes of non-traumatic musculoskeletal pain in children. In very young children, several inherited disorders that primarily affect systems other than the musculoskeletal system may initially present with arthritis. In particular, sickle cell disease and hemophilia may initially present with arthritis. Juvenile rheumatoid arthritis, spondyloarthropathies, and lupus are potential autoimmune causes. Stuart and Nagel discuss microvascular bony complications due to sickle cell. Occlusion of small vessels in the bone marrow can lead to necrosis, with subsequent inflammatory activation causing pain and inflammation. The long bones, ribs, spine, and pelvis are frequently affected. Occlusion in the small bones of the hands or feet contributes to the development of dactylitis. Figure A shows dactylitis in the hands of a young African American patient. Incorrect Answers: Answer 1: Hereditary spherocytosis can be caused by ankyrin defects but does not typically present with dactylitis. Answer 2: Decreased glutathione production in red blood cells is seen in G6PD deficiency; this does not typically present with dactylitis. Answer 3: Complement-mediated red blood cell lysis is seen in paroxysmal nocturnal hemoglobinuria; this does not typically present with dactylitis. Answer 5: This boy's presentation is not consistent with lead poisoning (sluggishness, irritability, vomiting, and abdominal pain). Additionally, lead-based paints were banned in all states in 1978.
2.7
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