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Author Spotlight: Time and Cost-Effective Fibrinogen-PAGE for Fibrinogenolytic Studies
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HYPOFIBRINOGENEMIA (A Report of Two Cases).
Harsh Kumar1, P Sivadas2, C Lakshmanan3
1Reader, Dept of Pathology, AFMC, Pune 411 040.
Medical Journal, Armed Forces India
|August 4, 2017
Summary
Hypofibrinogenemia, a rare bleeding disorder, was diagnosed in two siblings with mild bleeding tendencies. This case report highlights the rarity and clinical presentation of this uncommon condition.
Area of Science:
- Hematology
- Genetics
- Pediatrics
Background:
- Hypofibrinogenemia is a rare inherited bleeding disorder characterized by low levels of fibrinogen.
- Fibrinogen is essential for blood clot formation, and its deficiency leads to bleeding diathesis.
- Understanding rare bleeding disorders is crucial for accurate diagnosis and management.
Observation:
- Two siblings presented with a mild bleeding diathesis.
- Clinical investigation confirmed the diagnosis of hypofibrinogenemia in both individuals.
- The familial occurrence suggests a potential genetic basis for the condition.
Findings:
- The siblings were diagnosed with hypofibrinogenemia, an uncommon bleeding disorder.
- The mild bleeding symptoms observed are consistent with this diagnosis.
- The rarity of the condition underscores the importance of thorough diagnostic workups.
Implications:
- This case report contributes to the limited literature on hypofibrinogenemia.
- Early diagnosis and genetic counseling are important for affected families.
- Further research into the genetic underpinnings and treatment options for hypofibrinogenemia is warranted.
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