Merging evans syndrome with mucopolysaccharidosis type II: a case report - Takeaways - MDSpire

Merging evans syndrome with mucopolysaccharidosis type II: a case report

  • By

  • Xinrui Wang

  • Jing Zhang

  • Yanhui Tang

  • Chunyan Liu

  • Peng Hu

  • You Yang

  • Hongying Chen

  • May 4, 2026

  • 0 min

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  • 1

    Mucopolysaccharidosis type II (MPS II) is an X-linked recessive disorder caused by mutations in the iduronate-2-sulfatase (IDS) gene.

  • 2

    The case study presents a 2-year-old male with concurrent Evans syndrome (ES) and MPS II, exhibiting severe anemia and thrombocytopenia.

  • 3

    Laboratory tests showed decreased hemoglobin, positive Coombs test, anti-platelet antibodies, and elevated urinary glycosaminoglycans.

  • 4

    Whole exome sequencing identified a novel compound heterozygous mutation in the IDS gene, expanding the known mutational spectrum.

  • 5

    Hematopoietic stem cell transplantation (HSCT) effectively normalized IDS enzyme activity and resolved ES symptoms in the patient.

Original Source(s)

Merging evans syndrome with mucopolysaccharidosis type II: a case report

  • by Xinrui Wang, Jing Zhang, Yanhui Tang, Chunyan Liu, Peng Hu, You Yang, Hongying Chen

  • May 4, 2026

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