title: Rare coagulation factor deficiencies: a countrywide screening data from India.
abstract: As compared to haemophilia, although the clinical features and the management strategies for rare coagulation factor deficiencies are discussed, little is known about them. This study was undertaken to assess the distribution, clinical presentation and treatment of patients with rare coagulation factor deficiency disorders in a cross-sectional population of India. Blood samples and other clinical details from patients suspected of rare coagulation factor deficiencies were collected by the Haemophilia Treatment Centers across India and were diagnosed at National Institute of Immunohaematology, Mumbai. A total of 321 cases of rare clotting factor deficiencies were diagnosed, of which 88% were severe, 10% moderate and 2% mild. Commonest deficiency encountered was factor XIII (FXIII) (30%) followed by FX (15.6%), FVII (15%), fibrinogen (12.1%), FXI (9%), combined V and VIII deficiency (5.6%) and congenital multiple vitamin K-dependent coagulation factor deficiency (MCFD, 2.1%). Major representation of these deficiencies was from Southern and Western India (82%). Mucocutaneous bleeding was the commonest clinical presentation (59%); intracranial (IC) haemorrhage was seen in 18% of the patients; menorrhagia was an important clinical pointer in women in the reproductive age group (78%); 8% of the severe cases had no history of bleeding and 73% of the FXIII deficiency cases had umbilical stump bleeding. The major therapeutic products used was fresh frozen plasma (64%), cryoprecipitate (15%), whole blood (15%), antifibrinolytics (5%) and recombinant FVIIa (1%). A distinct pattern in the distribution of rare clotting factor deficiencies was observed which was based on multiple factors that include ethnicity and the available diagnostic facilities in different regions of this vast country.
authors.affiliation: National institute of Immunohaematology (ICMR), KEM Hospital, Parel, Mumbai, 400 012, India.
authors.forename: S
authors.initials: S
authors.lastname: Shetty
authors.forename: T
authors.initials: T
authors.lastname: Shelar
authors.forename: D
authors.initials: D
authors.lastname: Mirgal
authors.forename: V
authors.initials: V
authors.lastname: Nawadkar
authors.forename: P
authors.initials: P
authors.lastname: Pinto
authors.forename: S
authors.initials: S
authors.lastname: Shabhag
authors.forename: A
authors.initials: A
authors.lastname: Mukaddam
authors.forename: B
authors.initials: B
authors.lastname: Kulkarni
authors.forename: K
authors.initials: K
authors.lastname: Ghosh
mesh_terms: D000293:Adolescent; D002648:Child; D002675:Child, Preschool; D020147:Coagulation Protein Disorders / Q000453:epidemiology* / Q000628:therapy; D003430:Cross-Sectional Studies; D005260:Female; D006801:Humans; D007194:India / Q000453:epidemiology; D007223:Infant; D008297:Male; D008403:Mass Screening; D035583:Rare Diseases / Q000453:epidemiology* / Q000628:therapy; D055815:Young Adult
keywords: India; rare bleeding disorders; rare coagulation factor deficiencies