What question did this study set out to answer?

This research aims to explore the clinical and genetic aspects of hereditary spherocytosis combined with familial chylomicronemia syndrome in a family.

January 25, 2026

Case Report: Clinical and genetic analysis of a family with hereditary spherocytosis combined with familial chylomicronemia syndrome

Key Result

The family with hereditary spherocytosis exhibited heterozygous mutations SPTB c.6005G>A (p.Trp2002*) and LPL c.292G>A (p.Ala98Thr) as pathogenic causes.

Key Points

This research aims to explore the clinical and genetic aspects of hereditary spherocytosis combined with familial chylomicronemia syndrome in a family.
Collected clinical data from family members.
Performed high-throughput sequencing to find mutations in HS and FCS-related genes.
Confirmed mutations via PCR-Sanger sequencing and conducted bioinformatics analysis.
Proband exhibited severe anemia, splenomegaly, and jaundice.
Identified a heterozygous mutation in the SPTB gene and a missense mutation in the LPL gene.
SPTB mutation is extremely rare in the general population.

Structured PICO

Population

3 family members (proband, mother, father) from China. The proband is a female born in October 2011 presenting with severe anemia, splenomegaly, and jaundice.

Intervention

Whole-exome sequencing, PCR-Sanger sequencing, and splenectomy (for the proband)

Outcome

Identification of pathogenic variants in genes associated with hereditary spherocytosis (HS) and familial chylomicronemia syndrome (FCS)

This case report identifies a novel SPTB mutation and an LPL mutation causing concurrent hereditary spherocytosis and familial chylomicronemia syndrome in a single family.

Main Result

Absolute Event Rate: 0% vs 0%

Abstract

ObjectiveThis study was conducted to investigate the clinical and genetic characteristics of a family affected by hereditary spherocytosis (HS) combined with familial chylomicronemia syndrome (FCS), identify the pathogenic cause, and provide a basis for the clinical diagnosis, treatment, and genetic counseling of affected children. MethodsClinical data were collected from family members. High-throughput sequencing was performed to identify pathogenic variants in genes associated with HS and FCS in the proband. Suspected pathogenic mutations were confirmed in family members via PCR-Sanger sequencing. Bioinformatics analysis and three-dimensional protein structure prediction were also conducted. ResultsThe proband presented with severe anemia, splenomegaly, and jaundice. Genetic testing revealed a heterozygous mutation, c. 6005G>A (p. Trp2002*), in the spectrin beta chain (SPTB) gene (NM₀01355436. 2) and a missense mutation, c. 292G>A (p. Ala98Thr), in the lipoprotein lipase (LPL) gene (NM₀00237. 3). The SPTB c. 6005G>A (p. Trp2002*) mutation was inherited from the mother, who exhibited mild anemia, jaundice, and splenomegaly. The LPL c. 292G>A (p. Ala98Thr) mutation was inherited from the father, who had hypertriglyceridemia. The SPTB c. 6005G>A (p. Trp2002*) mutation is extremely rare in the general population. ConclusionThe heterozygous mutations SPTB c. 6005G>A (p. Trp2002*) and LPL c. 292G>A (p. Ala98Thr) are the pathogenic causes in this family and provide a basis for clinical management and genetic counseling. Based on the HGMD, 1000G, and ExAC databases, the SPTB c. 6005G>A (p. Trp2002*) mutation is reported here for the first time, enriching the mutation spectrum of the SPTB gene.

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