遗传性球形红细胞增多症合并意义未明克隆性血细胞减少一例报道

孙晓冰; 曾庆文; 吴炯; 侯琦; 董艳; 徐榕; 郝思国

doi:10.65948/DICM20260326.0001

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遗传性球形红细胞增多症合并意义未明克隆性血细胞减少一例报道

更新时间：2026-07-02

- 遗传性球形红细胞增多症合并意义未明克隆性血细胞减少一例报道
- A Case Report of Hereditary Spherocytosis Complicated with Clonal Cytopenia of Undetermined Significance
- 数智医学 2026年页码：1-5
- 作者机构：
  
  1.上海嘉会国际医院检验科，上海 200233
  2.上海嘉会国际医院肿瘤中心，上海 200233
- 作者简介：
  
  论文通信作者：郝思国（haosghj88@sina.com）
- 基金信息：
- DOI：10.65948/DICM20260326.0001
  中图分类号：
- 收稿：2026-03-26，
  
  修回：2026-05-06，
  
  录用：2026-05-22，
  
  网络首发：2026-07-01，
- 稿件说明：
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孙晓冰,曾庆文,吴炯等.遗传性球形红细胞增多症合并意义未明克隆性血细胞减少一例报道[J].数智医学,

SUN Xiaobing,ZENG Qingwen,WU Jiong,et al.A Case Report of Hereditary Spherocytosis Complicated with Clonal Cytopenia of Undetermined Significance[J].Intelligent Digital Clinical Medicine,
孙晓冰,曾庆文,吴炯等.遗传性球形红细胞增多症合并意义未明克隆性血细胞减少一例报道[J].数智医学, DOI：10.65948/DICM20260326.0001.

SUN Xiaobing,ZENG Qingwen,WU Jiong,et al.A Case Report of Hereditary Spherocytosis Complicated with Clonal Cytopenia of Undetermined Significance[J].Intelligent Digital Clinical Medicine, DOI：10.65948/DICM20260326.0001.

摘要

患者男，57岁，反复乏力、黄疸50余年，伴茶色尿，十余年前出现贫血，2025年2月出现全血细胞减少、巨脾，于外院行腹腔镜全脾切除术，术后仅血小板恢复。入院查血常规示白细胞、血红蛋白降低，网织红细胞比例升高，外周血涂片见球形红细胞约10%、有核红细胞及帕彭海默小体。全外显子测序检出

SPTB

基因突变（编码β收缩蛋白）及髓系肿瘤相关

DNMT3A

突变，诊断遗传性球形红细胞增多症（HS）合并意义未明克隆性血细胞减少（CCUS）。随访期间患者呈慢性重度贫血，需输血支持，患者在当地未予以其他治疗和干预，未长期监测克隆突变负荷，疾病进展风险暂无法评估。HS与CCUS共病临床罕见，易误诊漏诊，整合临床表现、形态学与基因组学证据是实现精准诊断与个体化诊疗的关键。

Abstract

The patient was a 57-year-old male with repeated fatigue and jaundice for more than 50 years

accompanied by tea-colored urine. He had a history of anemia for over 10 years. In February 2025

he presented with pancytopenia and massive splenomegaly

and underwent laparoscopic total splenectomy at an outside hospital. Only the platelet count returned to normal postoperatively. Routine blood tests on admission showed decreased white blood cell count and hemoglobin level

and an elevated reticulocyte percentage. Peripheral blood smear revealed approximately 10% spherocytes

nucleated red blood cells

and Pappenheimer bodies. Whole-exome sequencing identified a pathogenic mutation in the

SPTB

gene (encoding β-spectrin) and a myeloid neoplasm-associated mutation in

DNMT3A

. A diagnosis of hereditary spherocytosis (HS) complicated by clonal cytopenia of undetermined significance (CCUS) was made. During follow-up

the patient had chronic severe anemia requiring blood transfusion support. No other treatments or interventions were administered locally

and long-term monitoring of clonal mutation burden was not performed; thus the risk of disease progression could not be assessed at present. The coexistence of HS and CCUS is clinically rare and prone to misdiagnosis or missed diagnosis. Integrating clinical

morphological and genomic evidence is essential for accurate diagnosis and personalized management.

关键词

Keywords

references

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