Abstract
A new patient with abnormal factor X (factor X Friuli) coagulation disorder is presented. The propositus is a 18 month old infant who presented a hematoma after birth and subsequently easy bruising. The main laboratory features were: prolonged prothrombin time, prolonged partial thromboplastin time, abnormal thromboplastin generation and normal RVV-cephalin clotting time. The prothrombin time and the thromboplastin generation test were corrected by the addition of normal serum. Factor X resulted to be low only when assayed using whole or partial tissue thromboplastin. It resulted to be normal using the RVV-cephalin mixture. The cross-over electrophoresis showed a normal factor X band in the patient's plasma whereas no band was present in factor X deficient plasma. Father and mother of our propositus and several other family members were found to be heterozygotes for the abnormality. The propositus is the first patient with this disorder born in Friuli after the description of the condition.
| Original language | English |
|---|---|
| Pages (from-to) | 151-158 |
| Number of pages | 8 |
| Journal | Blut |
| Volume | 27 |
| Issue number | 3 |
| DOIs | |
| Publication status | Published - Sep 1973 |
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ASJC Scopus subject areas
- Hematology
Cite this
Factor X Friuli coagulation disorder - First report of a patient born in Friuli after the description of the disease. / Girolami, Antonio; Carli, Arnaldo; Falomo, Roberto; De Marco, Luigi.
In: Blut, Vol. 27, No. 3, 09.1973, p. 151-158.Research output: Contribution to journal › Article
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TY - JOUR
T1 - Factor X Friuli coagulation disorder - First report of a patient born in Friuli after the description of the disease
AU - Girolami, Antonio
AU - Carli, Arnaldo
AU - Falomo, Roberto
AU - De Marco, Luigi
PY - 1973/9
Y1 - 1973/9
N2 - A new patient with abnormal factor X (factor X Friuli) coagulation disorder is presented. The propositus is a 18 month old infant who presented a hematoma after birth and subsequently easy bruising. The main laboratory features were: prolonged prothrombin time, prolonged partial thromboplastin time, abnormal thromboplastin generation and normal RVV-cephalin clotting time. The prothrombin time and the thromboplastin generation test were corrected by the addition of normal serum. Factor X resulted to be low only when assayed using whole or partial tissue thromboplastin. It resulted to be normal using the RVV-cephalin mixture. The cross-over electrophoresis showed a normal factor X band in the patient's plasma whereas no band was present in factor X deficient plasma. Father and mother of our propositus and several other family members were found to be heterozygotes for the abnormality. The propositus is the first patient with this disorder born in Friuli after the description of the condition.
AB - A new patient with abnormal factor X (factor X Friuli) coagulation disorder is presented. The propositus is a 18 month old infant who presented a hematoma after birth and subsequently easy bruising. The main laboratory features were: prolonged prothrombin time, prolonged partial thromboplastin time, abnormal thromboplastin generation and normal RVV-cephalin clotting time. The prothrombin time and the thromboplastin generation test were corrected by the addition of normal serum. Factor X resulted to be low only when assayed using whole or partial tissue thromboplastin. It resulted to be normal using the RVV-cephalin mixture. The cross-over electrophoresis showed a normal factor X band in the patient's plasma whereas no band was present in factor X deficient plasma. Father and mother of our propositus and several other family members were found to be heterozygotes for the abnormality. The propositus is the first patient with this disorder born in Friuli after the description of the condition.
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U2 - 10.1007/BF01634029
DO - 10.1007/BF01634029
M3 - Article
VL - 27
SP - 151
EP - 158
JO - Annals of Hematology
JF - Annals of Hematology
SN - 0939-5555
IS - 3
ER -