Severe factor X deficiency in a pair of siblings: Clinical presentation, phenotypic and genotypic features, prenatal diagnosis and treatment [2]

Haemophilia

Volumn 13, Issue 3, 2007, Pages 334-336

  Ingerslev, Jørgen ^a   Herlin, T ^a   Sorensen B ^a   Clausen, N ^a   Chu, K C ^b   High, K A ^b  

^a AARHUS UNIVERSITY HOSPITAL   (Denmark)

^b CHILDREN S HOSPITAL OF PHILADELPHIA   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ANTIHISTAMINIC AGENT; BLOOD CLOTTING FACTOR 10; BLOOD CLOTTING FACTOR 9 CONCENTRATE; CORTICOSTEROID; FRESH FROZEN PLASMA; PROTHROMBIN COMPLEX;

AMINO ACID SUBSTITUTION; BLEEDING; BLOOD CLOTTING FACTOR 10 DEFICIENCY; CASE REPORT; CLINICAL FEATURE; DISEASE SEVERITY; DRUG WITHDRAWAL; EPISTAXIS; EX VIVO STUDY; EXON; FEMALE; GASTROINTESTINAL HEMORRHAGE; GENETIC ANALYSIS; GENOTYPE; HEMARTHROSIS; HEMATURIA; HUMAN; IMMUNOLOGICAL TOLERANCE; LETTER; MALE; MENORRHAGIA; MISSENSE MUTATION; PHENOTYPE; PRENATAL DIAGNOSIS; PRIORITY JOURNAL; THROMBOEMBOLISM; URTICARIA;

CHILD, PRESCHOOL; FACTOR X DEFICIENCY; FEMALE; GENOTYPE; HUMANS; INFANT; INFANT, NEWBORN; MALE; PHENOTYPE; PREGNANCY; PRENATAL DIAGNOSIS; SIBLINGS;

EID: 34248512983     PISSN: 13518216     EISSN: 13652516     Source Type: Journal    
DOI: 10.1111/j.1365-2516.2007.01466.x     Document Type: Letter

References (6)

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2. ISTH factor X database, 2006. Update at: http://www.med.unc.edu/isth/ mutations-databases/FactorX_2006numbers.htm
3. Hermann FH, Auerswald G, Ruiz-Saez A et al. Factor X deficiency: clinical manifestation of 102 subjects from Europe and Latin America with mutations in the factor X gene. Haemophilia 2006; 12: 479-89.
4. Sørensen B, Johansen P, Christiansen K, Woelke M, Ingerslev J. Whole blood coagulation thrombeastographic profiles employing minimal tissue factor activation. J Thromb Haemost 2003; 1: 551-8.
5. Milar DS, Elliston L, Deex P et al. Molecular analysis of the genotype-phenotype relationship in factor X deficiency. Hum Genet 2000; 106: 249-57.
6. Auerswald G. Prophylaxis in rare coagulation disorders-factor X. Thromb Res 2006; 118S1: 518-21.