Clinical presentation of homozygous sickle cell disease

ABSTRACT

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 percent of the group, and had developed by the first to eighth birthdays in 32 percent, 61 percent, 78 percent, 86 percent, 90 percent, 92 percent, 94 percent and 96 percent, respectively. Inclusion of nonspeccific symptoms in the analyst 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 percent of the group overall and in 50 percent 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 the 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 of presentation did not appear to be affected by O-thalassemia status. (AU)