Document Type : Original Article
Authors
1
Pediatrics Department, Faculty of Medicine, Cairo University, Egypt
2
Pediatrics Department, Faculty of Medicine, Misr University for Science and Technology, Egypt
10.21608/asmj.2025.375901.1437
Abstract
Background: Sickle cell disease (SCD) is a widespread inherited hemoglobin disorder caused by a single amino acid substitution in the beta-globin gene. Sickle cell trait (SCT), where only one allele carries the mutation, is often seen as benign, though growing evidence suggests clinical symptoms can emerge under certain conditions.
Aim of the Work: To assess the clinical presentations, hematological profiles, and biochemical markers of SCT individuals attending Pediatric Hematology specialized clinics at Cairo University and Misr University for Science and Technology.
Patients and Methods: This cross-sectional research enrolled 60 Egyptian SCT subjects (50% male, median age 8 years), with full medical histories, clinical examinations, and laboratory investigations recorded.
Results: Half of the participants were symptom-free, while 50% displayed symptoms like abdominal pain (28.3%) and painful crises (26.7%). Strong familial aggregation (88.3%) and parental consanguinity (61.7%) were noted. Symptoms were often triggered by exertion, infection, or dehydration. Symptomatic subjects showed significantly lower mean red cell count, hemoglobin (Hb), hematocrit (HCT), mean corpuscular volume (MCV), mean corpuscular hemoglobin (MCH) (p =0.036, 0.001, 0.008, 0.019, and 0.029 respectively), and higher reticulocytes, and c-reactive protein (CRP) (p = 0.021 and 0.044 respectively), indicating that symptomatic subjects experienced significant anemia, hemolysis, and inflammation. Additionally, Alanine transaminase (ALT) levels were significantly lower in symptomatic subjects (p = 0.011), suggesting liver enzyme variations between both groups. On the other hand, other variables did not show significant differences.
Conclusion: Despite its reputation as a benign condition, SCT can lead to clinical symptoms and hematological abnormalities, necessitating awareness, careful monitoring, and tailored care for affected individuals.
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