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Four factor deficiency.
Blood Coagul Fibrinolysis 2003; 14 Suppl 1:S55-7BC

Abstract

Four factor deficiency is variably associated with mild to fatal bleeding. We describe a 3-month-old boy, born of consanguineous parents, who presented with a right subdural haematoma and a clotting screen showing a prothrombin time (PT) > 100 s, an activated partial thromboplastin time (aPTT) > 150 s, a fibrinogen of 0.4 g/l, and fibrinogen degradation products < 1 microg/ml. He was given 300 U of factor IX concentrate (containing factors II and X) and 1 mg of vitamin K intravenously. Forty-five minutes later, clotting tests showed a PT of 24 s, an aPTT of 31 s and a fibrinogen of 2.6 g/l. The patient was found to be deficient in all the vitamin K-dependent factors: factors II, VII, IX and X, protein C and protein S. A 14-base deletion was found in intron 1 (bases 1056-1069) of the gamma-carboxylase gene. The patient and his elder sister were homozygous for this deletion, whereas both parents were heterozygous. The deletion destroys a reverse palindromic sequence (TTGAGGCAA) of the type often associated with cis-acting elements. Our results suggest that this element may be involved in the regulation of gamma-carboxylase expression. Expression studies are being completed so that this region can be definitively ascribed as a cis-acting element involved in gene regulation.

Authors+Show Affiliations

Royal Hospital for Sick Children, Edinburgh, UK. angela.thomas@luht.scot.nhs.uk

Pub Type(s)

Case Reports
Journal Article

Language

eng

PubMed ID

14567538

Citation

Thomas, Angela, and David Stirling. "Four Factor Deficiency." Blood Coagulation & Fibrinolysis : an International Journal in Haemostasis and Thrombosis, vol. 14 Suppl 1, 2003, pp. S55-7.
Thomas A, Stirling D. Four factor deficiency. Blood Coagul Fibrinolysis. 2003;14 Suppl 1:S55-7.
Thomas, A., & Stirling, D. (2003). Four factor deficiency. Blood Coagulation & Fibrinolysis : an International Journal in Haemostasis and Thrombosis, 14 Suppl 1, pp. S55-7.
Thomas A, Stirling D. Four Factor Deficiency. Blood Coagul Fibrinolysis. 2003;14 Suppl 1:S55-7. PubMed PMID: 14567538.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Four factor deficiency. AU - Thomas,Angela, AU - Stirling,David, PY - 2003/10/22/pubmed PY - 2004/4/17/medline PY - 2003/10/22/entrez SP - S55 EP - 7 JF - Blood coagulation & fibrinolysis : an international journal in haemostasis and thrombosis JO - Blood Coagul. Fibrinolysis VL - 14 Suppl 1 N2 - Four factor deficiency is variably associated with mild to fatal bleeding. We describe a 3-month-old boy, born of consanguineous parents, who presented with a right subdural haematoma and a clotting screen showing a prothrombin time (PT) > 100 s, an activated partial thromboplastin time (aPTT) > 150 s, a fibrinogen of 0.4 g/l, and fibrinogen degradation products < 1 microg/ml. He was given 300 U of factor IX concentrate (containing factors II and X) and 1 mg of vitamin K intravenously. Forty-five minutes later, clotting tests showed a PT of 24 s, an aPTT of 31 s and a fibrinogen of 2.6 g/l. The patient was found to be deficient in all the vitamin K-dependent factors: factors II, VII, IX and X, protein C and protein S. A 14-base deletion was found in intron 1 (bases 1056-1069) of the gamma-carboxylase gene. The patient and his elder sister were homozygous for this deletion, whereas both parents were heterozygous. The deletion destroys a reverse palindromic sequence (TTGAGGCAA) of the type often associated with cis-acting elements. Our results suggest that this element may be involved in the regulation of gamma-carboxylase expression. Expression studies are being completed so that this region can be definitively ascribed as a cis-acting element involved in gene regulation. SN - 0957-5235 UR - https://www.unboundmedicine.com/medline/citation/14567538/Four_factor_deficiency_ L2 - http://Insights.ovid.com/pubmed?pmid=14567538 DB - PRIME DP - Unbound Medicine ER -