Celiac disease in a child with beta-thalassemia major: a need for improved screening and awareness

Area of Science:

• Pediatrics
• Genetics and Heredity
• Gastroenterology

Background:

• Growth failure is a common complication in children with thalassemia major, often stemming from multiple factors.
• Identifying all causes of growth failure is crucial for effective management in these patients.

Observation:

• A 10-year-old boy with beta-thalassemia major presented with early-onset growth failure despite a hypertransfusion regimen.
• Initial investigations ruled out common causes like viral infections, zinc deficiency, and growth hormone deficiency.
• Despite the absence of gastrointestinal symptoms, malabsorption was suspected due to persistent growth failure.

Findings:

• Elevated tissue transglutaminase levels (>300 IU/mL) strongly indicated celiac disease.
• Jejunal biopsy revealed characteristic mucosal lesions, confirming the diagnosis of celiac disease.
• The patient had beta-thalassemia major, a genetic blood disorder.

Implications:

• Celiac disease should be considered as an underdiagnosed cause of growth failure in children with beta-thalassemia major.
• Prompt diagnosis and institution of a gluten-free diet can lead to significant improvements in growth parameters.
• This case highlights the importance of a comprehensive diagnostic approach for growth failure in pediatric patients with chronic conditions.