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September 10, 2025Frontiers in PediatricsOpen Access

Progressive cephalohematoma in a neonate revealing severe hemophilia a owing to intron 22 inversion: a case report

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Authors

CPCheng PengQKQiuyue KouQXQianqian Xia

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Overview

Case report highlights progressive cephalohematoma and diagnostic challenges in neonates with hemophilia a, suggesting early intervention.

Key Points

  • Neonatal-onset hemophilia a can manifest through subtle symptoms, leading to potential diagnostic delays.
  • Genetic testing confirmed severe hemophilia a with a factor viii activity of <1% due to intron 22 inversion.
  • Collaborative management led to resolution of hematoma and no further bleeding episodes at 6 weeks follow-up.
  • Combining functional coagulation assays with molecular testing is crucial for accurate hemophilia diagnosis.

Cite This Study

Peng et al. (2025) studied this question.

synapsesocial.com/papers/68c1b34d54b1d3bfb60e9c86https://doi.org/10.3389/fped.2025.1649183
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