Clinical presentation of sickle cell-hemoglobin C disease.
Early symptoms were observed in a representative sample of 166 children with sickle cell-hemoglobin C disease diagnosed at birth. Symptoms were uncommon in the first year of life; in approximately 50% specific symptoms had developed by 5 years, but 22% remained without specific symptoms to 10 years. The age at presentation was significantly earlier in patients with low hemoglobin F levels, but was not influenced by heterozygous alpha-thalassemia-2. Painful crisis was the initial manifestation in 77% of the children; other symptoms included dactylitis (14%) and pneumococcal septicemia and acute splenic sequestration (4% each). The commonest nonspecific symptom was acute chest syndrome. The relatively mild early clinical course of sickle cell-hemoglobin C disease indicates that neonatal diagnosis does not have the same urgency as for homozygous sickle cell disease.
D000208:Acute Disease; D000755:Anemia, Sickle Cell / Q000175:diagnosis*; D001853:Bone Marrow / Q000098:blood supply; D002648:Child; D002675:Child, Preschool; D006450:Hemoglobin SC Disease / Q000150:complications / Q000175:diagnosis*; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D007238:Infarction; D010020:Osteonecrosis / Q000209:etiology; D010146:Pain / Q000209:etiology; D011018:Pneumonia, Pneumococcal / Q000150:complications; D013163:Splenomegaly / Q000209:etiology; D013789:Thalassemia / Q000150:complications