Clinical course and pregnancy outcomes in women with hereditary spherocytosis: Insights from a case series

Abstract

Background

Hereditary spherocytosis (HS) is a genetic haemolytic anaemia, mainly inherited in an autosomal dominant manner. Management varies by severity, and limited data exist on HS in pregnancy in India; this study assesses clinical and obstetric outcomes in affected women.

Methods

This retrospective study at JIPMER from 2014 to 2020 included 10 pregnant women with confirmed HS identified from labour room records. Data on demographics, medical and obstetric history, clinical presentation, pregnancy course, delivery details, complications, maternal and neonatal intensive care unit admissions, laboratory findings and postpartum outcomes were collected using a structured proforma.

Results

This case series of 10 pregnant women with HS highlights anaemia, jaundice, and weakness as common symptoms confirmed by laboratory findings. Most had term vaginal deliveries; one required caesarean section due to complications. Neonatal outcomes were favourable, with no neonatal HS cases. Anaemia was more pronounced in women without splenectomy, while splenectomised patients showed greater hematologic stability. Bone marrow findings indicated compensatory erythroid hyperplasia. Diagnosis relied on clinical and haematological criteria, as genetic testing was not performed.

Conclusion

HS in pregnancy is rare but manageable with appropriate antenatal care. This study confirms its classical presentation in the Indian population and supports early diagnosis, Eosin-5-maleimide testing and supportive management. Genetic testing and improved postnatal surveillance are recommended.