Complement-related genetic analysis for Japanese children with transplant-associated thrombotic microangiopathy - Takeaways - MDSpire

Genetic Analysis of Complement Factors in Japanese Pediatric Patients with Transplant-Associated Thrombotic Microangiopathy

  • By

  • Ai Yamada

  • Shun Nagasawa

  • Midori Nakagawa

  • Sachiyo Kamimura

  • Naoki Sakata

  • Hideki Nakayama

  • Daiichiro Hasegawa

  • Yasuhiro Okamoto

  • Masanobu Takeuchi

  • Osamu Ohara

  • Hiroshi Moritake

  • July 21, 2026

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  • 1

    Transplant-associated thrombotic microangiopathy (TA-TMA) is a serious complication following hematopoietic stem cell transplantation (HSCT).

  • 2

    The study analyzed 40 complement- and coagulopathy-related genes in 44 Japanese pediatric patients, including 20 with TA-TMA.

  • 3

    No significant differences in genetic variants were found between patients with and without TA-TMA in the studied cohort.

  • 4

    A novel rare variant in the C1r-like protein (C1RL) gene was identified in a patient with neuroblastoma and TA-TMA.

  • 5

    Further studies with larger cohorts are necessary to clarify the genetic associations of TA-TMA in Japanese pediatric patients.

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