Document Detail

Fibrinogen Nový Jicín and Praha II: cases of hereditary Aalpha 16 Arg-->Cys and Aalpha 16 Arg-->His dysfibrinogenemia.
MedLine Citation:
PMID:  17408725     Owner:  NLM     Status:  MEDLINE    
INTRODUCTION: Various dysfibrinogenemias have been described worldwide. This paper describes two new cases of dysfibrinogenemia identified in the Czech Republic. MATERIALS AND METHODS: The proposita of fibrinogen Nový Jicín, a 12-year-old girl, presented with hemorrhagic complications, low Clauss fibrinogen level (0.3 g/l) and prolonged both thrombin (70.8 s) and reptilase (>180 s) time. Her mother and sister both presented with normal coagulation tests, normal fibrinogen level and reported no history of bleeding. The carriers of the fibrinogen Praha II were a 31-year-old man and his 11-year-old daughter. They both presented with low fibrinogen Clauss level (0.88 g/l) and prolonged thrombin and reptilase time. To identify the genetic mutation responsible for these dysfibrinogens, genomic DNA extracted from the blood was analyzed. The presence of the mutant chains in the circulation was determined by MALDI-TOF mass spectroscopy. Scanning electron micrographs of the patients' fibrin clots were obtained. RESULTS: The kinetics of fibrinopeptide release and fibrin polymerization were impaired for both fibrinogen Nový Jicín and Praha II. DNA sequencing showed heterogeneous fibrinogen Aalpha R16C mutation in the fibrinogen Nový Jicín case and heterogeneous fibrinogen Aalpha R16H in the fibrinogen Praha II case. The mutant chains were found to be expressed to the circulation by MALDI-TOF mass spectroscopy. Scanning electron micrographs of the patient's fibrin clot were found to be abnormal. CONCLUSIONS: The case of dysfibrinogenemia Aalpha R16C-fibrinogen Nový Jicín and the case of dysfibrinogenemia Aalpha R16H were found by routine coagulation testing and were genetically identified.
Roman Kotlín; Martina Chytilová; Jirí Suttnar; Tomás Riedel; Peter Salaj; Jan Blatný; Jirí Santrůcek; Pavel Klener; Jan E Dyr
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Publication Detail:
Type:  Journal Article; Research Support, Non-U.S. Gov't     Date:  2007-04-03
Journal Detail:
Title:  Thrombosis research     Volume:  121     ISSN:  0049-3848     ISO Abbreviation:  Thromb. Res.     Publication Date:  2007  
Date Detail:
Created Date:  2007-11-06     Completed Date:  2008-03-03     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  0326377     Medline TA:  Thromb Res     Country:  United States    
Other Details:
Languages:  eng     Pagination:  75-84     Citation Subset:  IM    
Institute of Hematology and Blood Transfusion, U nemocnice 1, 128 20 Praha 2, Czech Republic.
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MeSH Terms
Afibrinogenemia / genetics*
Blood Coagulation Tests
Czech Republic
DNA Mutational Analysis
Family Health
Fibrin / metabolism
Fibrinogens, Abnormal / genetics*
Mutation, Missense*
Reg. No./Substance:
0/Fibrinogens, Abnormal; 0/fibrinogen Novy Jicin; 0/fibrinogen Praha II; 9001-31-4/Fibrin

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