Rare coagulation factor deficiencies: a countrywide screening data from India

Area of Science:

• Hematology
• Rare Diseases
• Clinical Research

Background:

• Rare coagulation factor deficiencies are less understood than hemophilia.
• Limited data exists on their epidemiology and clinical characteristics in India.

Purpose of the Study:

• To assess the distribution, clinical presentation, and treatment of rare coagulation factor deficiencies in India.
• To understand the epidemiological patterns of these disorders within the Indian population.

Main Methods:

• Cross-sectional study involving 321 patients suspected of rare coagulation factor deficiencies across India.
• Data collection included blood samples and clinical details from Haemophilia Treatment Centers.
• Diagnosis was performed at the National Institute of Immunohaematology, Mumbai.

Main Results:

• Factor XIII (FXIII) deficiency was most common (30%), followed by FX (15.6%), FVII (15%), and fibrinogen (12.1%).
• Mucocutaneous bleeding (59%) and intracranial hemorrhage (18%) were prevalent clinical presentations.
• Menorrhagia affected 78% of women of reproductive age; 73% of FXIII deficiency cases presented with umbilical stump bleeding.

Conclusions:

• A distinct geographical and demographic pattern of rare clotting factor deficiencies exists in India.
• Understanding these patterns is crucial for targeted diagnosis and management strategies.
• Fresh frozen plasma was the primary treatment modality used.