Year: 2025
Type: article
Abstract: Background: Hereditary spherocytosis (HS) is the most common inherited hemolytic anemia among individuals of Northern European descent, but it is increasingly recognized in the Indian pediatric population. However, epidemiological and genetic data from India remain limited. Objectives: This review summarizes the clinical profile, diagnostic modalities, genetic mutations, and treatment outcomes of hereditary spherocytosis in Indian children. Methods: A review of published Indian studies from tertiary care centers and genetic research institutions was conducted, emphasizing pediatric patients diagnosed with HS. Results: The clinical spectrum includes anemia, jaundice, splenomegaly, and growth failure. Mutational analysis shows ANK1 and SPTB as the most commonly affected genes. Splenectomy remains a key treatment modality, but challenges persist regarding post-operative complications and long-term growth outcomes. Conclusion: Hereditary Spherocytosis presents a significant health burden in Indian children. Improved access to molecular diagnostics and long-term follow-up is essential for optimized care.
Authors: Dipavali Jariwala, Vivek Patel, Sangita Trivedi
Language: English
Subfield: Physiology
Field: Medicine
Domain: Health Sciences
Open Access status: diamond
OpenAlex ID: W4411212067