Work

A novel SPTB variant in a Cambodian child with hereditary spherocytosis without a family history

Year: 2025

Type: article

Abstract: Hereditary spherocytosis (HS) is a form of congenital hemolytic anemia resulting from red cell membrane protein deficiency. Most cases (75 %) will have a family history of HS, but for those with no family history, there may be a delay in diagnosis. Herein, we report a 3 ½ years old boy of Cambodian origin who presented with anemia, jaundice, and hepato-splenogaly with no family history of hemolysis. The blood film showed spherocytosis and polychromasia with a negative direct agglutination test (DAT). Genomic DNA analysis of the SPTB gene (NM_001355436.2) revealed a novel, unreported heterozygous variant, c.1720dup, (p.Glu574GlyfsTer3), confirming as de novo variant and caused HS. Treatment focuses on supportive care, including folic acid supplementation and transfusion as needed. This is the first case report of HS resulting from a novel heterozygous SPTB variant in Cambodia. HS should be considered in the differential diagnosis of hemolytic anemia, regardless of the patient's ethnic background.

Source: Pediatric Hematology Oncology Journal

DOI: 10.1016/j.phoj.2025.04.005

Authors: Chean Sophâl, Kim Leanghay, Chin Soey

Language: English

Topic: Erythrocyte Function and Pathophysiology

Subfield: Physiology

Field: Medicine

Domain: Health Sciences

SDG: Good health and well-being

Open Access status: gold

Estimated APC paid: $600

Funder: New England Biolabs