Hereditary Spherocytosis in a Neonate with a New Frameshift Deletion- A Case Report

Abstract

Introduction: Hemolytic anaemias often occur in neonates, often presenting with jaundice or encephalopathy. Hereditary spherocytosis is the most common cause, followed by glucose-6-phosphate-dehydrogenase deficiency and ABO isoimmunization. Early diagnosis and laboratory evaluation are crucial for effective interventions and preventing complications. This case report helps to recognise the clinical signs of hereditary spherocytosis early. And to emphasise the importance of the HS ratio in the diagnostic approach to hereditary spherocytosis. Case Report: A 20-day-old first-born female baby presented with progressive pallor and jaundice since 7 days of life. The baby was treated with phototherapy and discharged home. On the 20th day, the parents noticed increasing jaundice and pallor, leading to a provisional diagnosis of hemolytic anaemia with splenomegaly. The baby had anaemia and unconjugated hyperbilirubinemia with normal liver enzymes. Hemolysis was found, and the mother's blood group was A-positive. The baby had an HS Ratio of 0.43, suggesting hereditary spherocytosis. Clinical exome sequencing confirmed hereditary spherocytosis type 2. The baby is currently 9 months old and growing normally. Conclusion: The HS ratio is more useful to diagnose hereditary spherocytosis. This study further expanded the mutation spectrum of the SPTB gene. Reaffirms the diagnostic value of gene detection in neonatal HS type 2.