Severe haemophilia A in a neonate from a resource-limited country

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.

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Publication Details

Journal
BMJ Case Reports
Published
2024-11-01
DOI
https://doi.org/10.1136/bcr-2024-261946
Primary Topic
Hemophilia Treatment and Research
Type
article
Field-Weighted Citation Impact
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article

Severe haemophilia A in a neonate from a resource-limited country

Jochrys Estanislao, Ma. Cecilia D. Alinea, Glenn Patrick Montalbo Uygen
BMJ Case Reports
Hemophilia Treatment and Research
article

Severe haemophilia A in a neonate from a resource-limited country

Jochrys Estanislao, Ma. Cecilia D. Alinea, Glenn Patrick Montalbo Uygen
article en

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.

BMJ Case ReportsVol. 17(11)
Philippine General Hospital (PH)
Openalex Percentile: Top 67%
Hemophilia Treatment and Research
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