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Hereditary spherocytosis.

B L Bajracharya¹, A Giri, M R Baral

¹Kathmandu Medical College, Sinamangal, Kathmandu.

Kathmandu University Medical Journal (KUMJ)

|April 12, 2005

Summary

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Hereditary spherocytosis, a genetic red blood cell disorder, causes anemia and jaundice. This case highlights diagnosis and successful splenectomy in a pediatric patient.

Area of Science:

Hematology
Genetics

Background:

Hereditary spherocytosis (HS) is an inherited hemolytic anemia.
It results from defects in red blood cell (RBC) membrane proteins, like spectrin.
HS is typically transmitted as an autosomal dominant trait.

Observation:

A 9-year-old boy presented with prolonged jaundice and abdominal pain.
Clinical findings included jaundice, hepatomegaly, and significant splenomegaly.
Peripheral blood smear showed characteristic spherocytes, with elevated reticulocytes and increased osmotic fragility.

Findings:

The patient was diagnosed with hereditary spherocytosis based on clinical and laboratory findings.
Splenectomy was performed after appropriate vaccinations.
The patient received post-splenectomy antibiotic prophylaxis and advice upon discharge.

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Implications:

This case underscores the importance of recognizing HS in pediatric patients with hemolytic anemia.
Timely diagnosis and management, including splenectomy, can improve patient outcomes.
Vaccination and antibiotic prophylaxis are crucial for preventing complications post-splenectomy.