Clinical presentation of homozygous sickle cell disease.
The pattern of initial clinical symptoms and signs developing in a representative sample of 305 children with homozygous sickle cell (SS) disease diagnosed at birth was analyzed. Specific symptoms were present by age 6 months in 6% of the group, and had developed by the first to eighth birthdays in 32%, 61%, 78%, 86%, 90%, 92%, 94%, and 96%, respectively. Inclusion of nonspecific symptoms in the analysis led to earlier recognition by a mean of 3 months in the first year and by a mean of approximately 1 year between the ages of 2 and 4 years. Dactylitis was the most common initial symptom, noted in 40% of the group overall and in 50% in the first 2 years. Painful crisis was the first symptom in more than one fourth of the patients and was the most frequent symptom after the age of 2 years. Acute splenic sequestration led to presentation in one-fifth of the group overall and in one third of patients younger than 2 years. The most common nonspecific symptom was pneumonia. There was a significant trend of earlier presentation in children with low fetal hemoglobin levels. The age at presentation did not appear to be affected by alpha-thalassemia status.
Bainbridge
R
R
Higgs
D R
DR
Maude
G H
GH
Serjeant
G R
GR
D000755:Anemia, Sickle Cell / Q000235:genetics / Q000401:mortality / Q000503:physiopathology*; D002648:Child; D002675:Child, Preschool; D005319:Fetal Hemoglobin / Q000032:analysis; D006720:Homozygote; D006801:Humans; D007223:Infant; D010146:Pain / Q000503:physiopathology; D013789:Thalassemia / Q000503:physiopathology
D005319:Fetal Hemoglobin