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Clinical presentation of homozygous sickle cell disease
Insights
Early recognition of sickle cell disease (SCD) symptoms in children is crucial. Dactylitis and painful crises are common initial signs, with nonspecific symptoms aiding earlier diagnosis.
Area of Science:
- Pediatrics
- Hematology
- Genetics
Background:
- Homozygous sickle cell (SS) disease is a genetic blood disorder requiring early diagnosis.
- Understanding initial clinical manifestations aids timely intervention in children with SCD.
Purpose of the Study:
- To analyze the pattern of initial clinical symptoms and signs in a cohort of children with sickle cell disease diagnosed at birth.
- To determine the age of symptom onset and identify common early clinical manifestations.
Main Methods:
- Prospective analysis of 305 children diagnosed with homozygous sickle cell disease at birth.
- Systematic recording and analysis of initial clinical symptoms and signs over time.
- Evaluation of the impact of nonspecific symptoms on age at recognition.
Main Results:
- Specific symptoms appeared by 6 months in 6% and by 8 years in 96% of children.
- Dactylitis was the most common initial symptom (40%), followed by painful crisis (>25%).
- Acute splenic sequestration presented in 20% of patients, particularly those under 2 years.
Conclusions:
- Early recognition of sickle cell disease is possible through monitoring specific and nonspecific symptoms.
- Low fetal hemoglobin levels correlate with earlier presentation.
- Dactylitis and painful crises are key early indicators in pediatric SCD.
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% 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.