Women with Low Rate Hemophilia a Carrier or Severe von Willebrand Disease: How Facing Up in Low-Income Countries?
Year: 2025
Type: article
Study design: Case Report
Abstract: Introduction: In resource-limited regions, comprehensive care for congenital bleeding disorders remains deficient due to constraints such as limited resources and inadequate healthcare infrastructure.As a result, a substantial number of affected individuals remain undiagnosed.Aim: This study underscores the pressing requirement for enhancing healthcare infrastructure, diagnostic capabilities, and healthcare professional training in these areas.The World Federation of Hemophilia has initiated humanitarian aid initiatives in economically disadvantaged nations to improve the care of patients with rare bleeding disorders.Methods: Collaborating with select French-speaking African countries, the African French Alliance for the Treatment of Hemophilia conducts missions involving specialized French teams partnering with local healthcare providers to identify patients and deliver optimized care, training, and essential diagnostic tools.Results: This study presents two cases from Guinea Conakry featuring patients grappling with substantial bleeding problems.Limited diagnostic capabilities posed challenges in distinguishing between hemophilia carriers with low factorVIII levels and severe von Willebrand disease.These cases underscore the necessity for accurate diagnosis and specialized testing accessibility, particularly for women with bleeding disorders.The study displays the feasibility of transporting plasma samples for von Willebrand factor testing in resource-constrained settings, assisting clinicians in therapeutic decision-making.Furthermore, a novel mutation in the von Willebrand factor gene was identified, warranting further investigation.Conclusion: While humanitarian aid programs make strides in enhancing care for congenital bleeding disorders in developing nations, considerable challenges persist.This study provides interim solutions for diagnosis and care in scenarios where local resources fall short, emphasizing the ongoing imperative to strengthen healthcare infrastructure and diagnostic accessibility.
Source: Annals of Case Reports
Authors: Mamady Diakite, Abdoulaye Sylla, Issiaga Diallo, Edouard Hammelin, Nathalie Aubert-Gomez, Thomas Sannié, Emmanuelle Jeanpierre, Sophie Susen, Christophe Zawadzki, Jenny Goudemand, Malika Makhloufi, Nathalie Grinda, Dominique Lasne, Laurent Frenzel
Language: English
Subfield: Hematology
Field: Medicine
Domain: Health Sciences
Open Access status: diamond
OpenAlex ID: W4413446971