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Paediatrics
Severe haemophilia A in a neonate from a resource-limited country
  1. Glenn Patrick Montalbo Uygen,
  2. Ma Cecilia Alinea and
  3. Jochrys Estanislao
  1. Department of Pediatrics, University of the Philippines-Philippine General Hospital, Manila, Metro Manila, Philippines
  1. Correspondence to Dr Glenn Patrick Montalbo Uygen; patrickuygen{at}gmail.com

Abstract

Literature on haemophilia in the Philippines is sparse, especially in the neonatal group. This report showcases a newborn from a resource-limited country who was worked up for haemophilia after presenting with a strong family history and a large haematoma on his blood extraction site. Laboratory tests showed a normal platelet count, deranged coagulation parameters and severely decreased Factor VIII activity levels. Due to the unavailability of Factor VIII concentrate, the patient was transfused with fresh frozen plasma with no recurrence of bleeding and was discharged well. He was referred to haemophilia foundations for procurement of Factor VIII concentrates for emergency use. Subsequently, the patient presented with spontaneous left cheek swelling at 3 months old. Repeat coagulation parameters showed a twice elevated partial thromboplastin time and he was given Factor VIII concentrate at the emergency room. This report also discusses the challenges in the diagnosis and management of haemophilia in the Philippines.

  • Haematology (incl blood transfusion)
  • Pediatrics

https://doi.org/10.1136/bcr-2024-261946

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    Footnotes

    • Contributors The following authors were responsible for drafting of the text, sourcing and editing of clinical images, investigation results, drawing original diagrams and algorithms, and critical revision for important intellectual content: GPMU, MCA and JE. JE is the main author of the study, in charge while the patient is admitted and has written the case report. JE is a specialist in haematology and has guided the main author in managing the patient. She also edited the whole paper and provided insights. MCA is also an active consultant at the Philippine General Hospital and has provided insights into how to improve the writing of this paper. The following authors gave final approval of the manuscript: GPMU, MCA and JE.

    • Funding The authors have not declared a specific grant for this research from any funding agency in the public, commercial or not-for-profit sectors.

    • Case reports provide a valuable learning resource for the scientific community and can indicate areas of interest for future research. They should not be used in isolation to guide treatment choices or public health policy.

    • Competing interests None declared.

    • Provenance and peer review Not commissioned; externally peer reviewed.