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Updated: Aug 16, 2025

A Precision Medicine Tool for Measurement and Monitoring of Hemoglobin S in Sickle Cell Disease Patients Receiving Transfusion Therapy
Sickle Cell Disease in Early Infancy: A Case Report.
Seke G Y Muzazu1, Masuzyo Chirwa1, Shalom Khatanga-Chihana1
1Enteric Disease and Vaccines Research Unit, Centre for Infectious Disease Research in Zambia (CIDRZ), Lusaka, Zambia.
Sickle cell disease (SCD) can present severely in infants as young as two months, challenging the protective effect of fetal hemoglobin. Early clinical suspicion and expanded newborn screening are vital for timely diagnosis and management of this genetic blood disorder.
Area of Science:
- Hematology
- Genetics
- Pediatrics
Background:
- Sickle cell disease (SCD) is an inherited blood disorder affecting hemoglobin.
- Fetal hemoglobin (HbF) typically offers protection against severe SCD symptoms in early infancy.
Observation:
- This paper details an atypical case of SCD diagnosed at two months of age.
- The infant presented with severe symptoms necessitating hospitalization, contrary to expected HbF protection.
Findings:
- SCD can manifest with severe anemia in infants under six months old.
- Classic symptoms like dactylitis or pain crises may be absent in early-onset SCD.
Implications:
- Clinicians should maintain a high index of suspicion for SCD in infants with severe anemia, regardless of age or classic symptoms.
- Expanding newborn screening programs for SCD is crucial for early intervention, prophylaxis, and better management in developing nations.
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