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Hemoglobin C disease in infancy and childhood
J F Olson1, R E Ware, W H Schultz
1Department of Pediatrics, Duke University Medical Center, Durham, North Carolina 27710.
The Journal of Pediatrics
|November 1, 1994
Summary
Pediatric hemoglobin C disease is typically mild, with normal growth and slight hemolytic anemia. Newborn screening programs effectively identify affected children early.
Area of Science:
- Pediatric Hematology
- Medical Genetics
- Newborn Screening
Background:
- Hemoglobin C disease is a genetic blood disorder.
- Early identification is crucial for managing potential complications.
Purpose of the Study:
- To describe the clinical and hematologic characteristics of pediatric patients with hemoglobin C disease.
- To evaluate the effectiveness of newborn screening in identifying this condition.
Main Methods:
- Retrospective review of 16 pediatric patients with hemoglobin C disease.
- Analysis of clinical course, physical findings, and hematologic values.
- Inclusion of data from newborn hemoglobinopathy screening.
Main Results:
- Most patients identified through newborn screening showed few symptoms.
- Normal height and weight percentiles were observed in the cohort.
- Mild hemolytic anemia with microcytosis and target cells was characteristic.
Conclusions:
- Hemoglobin C disease in children often presents with a mild phenotype.
- Newborn screening is a valuable tool for early detection of hemoglobin C disease.