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Mild hemophilia in children: prevalence, complications, and treatment
L Venkateswaran1, J A Wilimas, D J Jones
1Department of Hematology-Oncology, St. Jude Children's Research Hospital, Memphis, Tennessee 38105, USA.
Insights
Mild hemophilia (factor VIII or IX levels 5-50%) can affect girls more than previously thought. Recognizing varied symptoms is key to timely diagnosis and treatment for children with mild hemophilia.
Area of Science:
- Hematology
- Pediatric Medicine
- Genetics
Background:
- Mild hemophilia, defined by factor VIII or IX levels between 5% and 50%, presents unique diagnostic and management challenges.
- Understanding the natural history of mild hemophilia is crucial for early identification and intervention in affected children.
Observation:
- A review of 55 pediatric patients with mild hemophilia revealed that females were diagnosed less frequently than expected.
- Bleeding episodes, predominantly in joints and soft tissues, were often linked to trauma.
- Delayed diagnosis was noted in patients without a family history and in female patients.
Findings:
- The study identified 190 bleeding episodes across 37 patients, with muscle/soft tissue and joint bleeds being most common.
- Diagnosis occurred later in girls (5.5 years) and those without a family history (5.3 years) compared to the overall average (2.8 years).
- A significant proportion of patients (35/55) were diagnosed due to a positive family history.
Implications:
- Mild hemophilia may be underdiagnosed in females, necessitating increased awareness.
- Recognizing the diverse clinical presentations of mild hemophilia is essential to avoid diagnostic delays.
- Timely diagnosis and appropriate management can improve outcomes for children with mild hemophilia.
Purpose:
To review the natural history of mild hemophilia (factor VIII or IX level >5% and <50%), including presentation and diagnosis, characteristics of bleeding episodes, and therapy, at two hemophilia treatment centers.
Methods:
Inpatient and outpatient records of 55 patients <17 years old with factor VIII or IX levels of 5 to 50% were reviewed and bleeding episodes for which medical attention was sought were analyzed.
Results:
Five of the 55 patients were girls. Girls and patients with no family history of hemophilia were diagnosed at 5.5 and 5.3 years of age, respectively, compared to 2.8 years overall. Thirty-five patients were diagnosed because of a positive family history. No bleeding occurred in 18 patients; 190 bleeding episodes occurred in 37 patients. Most bleeding occurred in muscle/soft tissue (101 episodes) or joints (57 episodes) and were associated with trauma (174 episodes).
Conclusions:
Mild hemophilia may affect females more often than is appreciated. Delays in diagnosis and treatment may occur unless the variability in presentation is recognized.
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