Sickle cell anemia

Case history #1

A 6-month-old boy with no previous medical problems presents with fever and painful swelling of the hands and feet. His parents are concerned because he has been inconsolable for 6 hours. The infant has been refusing bottles and has needed fewer diaper changes over the last 2 days. The family recently moved from a country without established pregnancy and neonatal screening.

Case history #2

A 24-year-old woman with known sickle cell disease presents with a 3-day history of cough productive of white sputum, nausea, and poor appetite. She also has chest and hip pain unalleviated by acetaminophen or ibuprofen.

Other presentations

Most individuals are diagnosed through neonatal screening programs.

Very young children may present with jaundice, hemolysis, or splenic sequestration crisis. For children older than 4 months, presentation may include swelling of the joints, especially dactylitis, leukocytosis in the absence of infection, protuberant abdomen (often with umbilical hernia), cardiac systolic flow murmur, and maxillary hypertrophy with overbite.

For all patients, acute painful episodes and hemolysis are characteristic of the disease.

Patients with hemoglobin SC disease may have fewer painful episodes, but are at higher risk of retinal hemorrhage. In patients born before widespread newborn screening, this could be the first presentation of the disease.