Stručni rad

Diagnosis of inherited coagulation disorders in Clinical Hospital Centre Rijeka

Nada Vukelić-Damijani ; Klinički zavod za transfuzijsku medicinu, KBC Rijeka, Rijeka
Nataša Katalinić ; Klinički zavod za transfuzijsku medicinu, KBC Rijeka, Rijeka
Antica Načinović-Duletić ; Klinika za internu medicinu, KBC Rijeka, Rijeka
Jelena Roganović ; Klinika za pedijatriju, KBC Rijeka, Rijeka
Sanja Balen ; Klinički zavod za transfuzijsku medicinu, KBC Rijeka, Rijeka

Sažetak

Aim: To analyse diagnostic data of inherited coagulati on disorders in Clinical Hospital Centre Rijeka, to determine the frequency, age of diagnosis and the reasons for laboratory testing. Methods: A retrospecti ve analysis of diagnosti c data for inherited coagulopathies in Clinical Hospital Centre Rijeka in period from 1975 to 2014. The data were collected from laboratory and medical documentati on of Coagulati on Laboratory of Clinical Insti tute for Transfusion Medicine. Results: During the study period 117 inherited coagulopathies were diagnosed. The most frequent were haemophilia A 33 % (39/117), von Willebrand disease 21 % (25/117), followed by haemophilia B 10 % (12/117) hypofi brinogenemia 10 % (12/117), and other rare inherited coagulopathies: factor VII: 11/117 (9 %), XI: 8/117 (7 %), V: 3/117 (3 %), XIII: 3/117 (3 %), X: 2/117 (2 %), and combined defi ciency of factors V and VIII: 2/117 (2 %). Severe haemophilia A has been diagnosed in 7/39 (18 %), moderate in 9/39 (23 %) and mild in 23739 (59 %) of cases. Severe haemophilia B has been diagnosed in one case (8 %), moderate in 6 (50 %) and mild in 5 (42 %). The reason for severe coagulopathies diagnosis has been enti rely a bleeding in early children’s age, while the reasons for other coagulopathies diagnoses have been bleeding, preoperati ve testi ng and family screening. Conclusion: In Clinical Hospital Centre Rijeka during forty years period 117 inherited coagulati on disorders have been diagnosed. The most common have been haemophlia A, von Willebrand disease, haemophilia B and factor I defi ciency, while other coagulopathies have been rare. Collected data are comparable with literature, except higher frequency of hypofibrinogenemia in our population.

Ključne riječi

diagnosis; hemophilia A; hemophilia B; inherited coagulation disorders

Hrčak ID:

153005

URI

https://hrcak.srce.hr/153005

Datum izdavanja:

1.3.2016.

Podaci na drugim jezicima: hrvatski

Posjeta: 3.590 *