Rare Congenital Factor Deficiencies in Childhood

SummaryMonospecific antisera against the human coagulation factor X have been raised in rabbits by injections of purified antigen. Such antiserum was used to study the cross-reacting material without factor X activity which is present in the blood of warfarin-treated patients and animals as well as to study the changes in factor X during coagulation. One patient with congenital factor X deficiency was also studied.A complete identity was found between factor X in Macaca mulatta and human blood. During warfarin treatment antigenically cross-reacting material appeared in plasma. This was not adsorbed on BaSO4, and inhibited the coagulation activity of normal factor X.Both this material, normal factor X and the cross-reacting material in plasma from a patient congenitally deficient in factor X gave rise to split products during coagulation by the intrinsic pathway, i. e. all of them served as substrates for the intrinsic activator of factor X.

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New Families with Hereditary Hemorrhagic Trait due to Deficiency of Fibrin Stabilizing Factor (F. XIII)

Thrombosis and Haemostasis ◽

10.1055/s-0038-1651295 ◽

1968 ◽

Vol 20 (03/04) ◽

pp. 534-541 ◽

Cited By ~ 3

Author(s):

O Egeberg

Keyword(s):

Factor Xiii ◽

Family Members ◽

Recessive Inheritance ◽

Factor Xiii Deficiency ◽

History Of ◽

Congenital Factor

SummarySevere hemorrhagic disorder due to congenital factor XIII deficiency is described in two unrelated Norwegian girls.Plasma cephalin time was for both patients extraordinarily short during episodes of bleeding and hematomas. No such hyperactivity reaction was demonstrable in unaffected condition some months later.Estimations of blood factor XIII levels revealed a partial defect in the parents of both children, and also in some other family members, consistent with an autosomal incompletely recessive inheritance of the defect. Some of the presumptive heterozygotes had a history of light bleeding phenomenons; whether this was related to their partial lack of factor XIII is so far uncertain.

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Two Typical Hereditary Charts of Congenital Factor VII Deficiency

Thrombosis and Haemostasis ◽

10.1055/s-0038-1654905 ◽

1961 ◽

Vol 05 (01) ◽

pp. 087-092 ◽

Cited By ~ 11

Author(s):

F. J Cleton ◽

E. A Loeliger

Keyword(s):

Factor Vii ◽

Autosomal Gene ◽

Homozygous State ◽

Recessive Character ◽

Factor Vii Deficiency ◽

Complete Penetrance ◽

Coagulation Defect ◽

Haemorrhagic Diathesis ◽

Intermediate Expression ◽

Congenital Factor

SummaryThe inheritance of congenital factor VII deficiency was investigated in 2 unrelated families. Out of 68 individuals, 4 (3 proven and 1 highly probable) were found to have severe factor VII deficiency (<C 0.1% factor VII), and 29 appeared to be heterozygotes (30—60% factor VII). The coagulation defect is due to an autosomal gene of intermediate expression and complete penetrance. The recessive character of the haemorrhagic diathesis due to the homozygous state for the abnormal gene is clearly demonstrated.

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Gynaecological and obstetrical bleeding in Caucasian women with congenital factor XI deficiency: Results from a twenty-year, retrospective, observational study

Medicina Clínica ◽

10.1016/j.medcli.2019.01.029 ◽

2019 ◽

Vol 153 (10) ◽

pp. 373-379

Author(s):

Carlos Bravo-Perez ◽

Teresa Ródenas ◽

Julio Esteban ◽

Maria Eugenia de la Morena-Barrio ◽

Salam Salloum-Asfar ◽

...

Keyword(s):

Observational Study ◽

Retrospective Observational Study ◽

Factor Xi ◽

Factor Xi Deficiency ◽

Caucasian Women ◽

Congenital Factor

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Recombinant factor XIII: a safe and novel treatment for congenital factor XIII deficiency

Blood ◽

10.1182/blood-2011-10-386045 ◽

2012 ◽

Vol 119 (22) ◽

pp. 5111-5117 ◽

Cited By ~ 69

Author(s):

Aida Inbal ◽

Johannes Oldenburg ◽

Manuel Carcao ◽

Anders Rosholm ◽

Ramin Tehranchi ◽

...

Keyword(s):

Factor Xiii ◽

Autosomal Recessive Disorder ◽

Allergic Reactions ◽

Open Label ◽

Impaired Wound Healing ◽

Bleeding Rate ◽

Life Threatening ◽

A Subunit ◽

Bleeding Episodes ◽

Congenital Factor

Congenital factor XIII (FXIII) deficiency is a rare, autosomal-recessive disorder, with most patients having an A-subunit (FXIII-A) deficiency. Patients experience life-threatening bleeds, impaired wound healing, and spontaneous abortions. In many countries, only plasma or cryoprecipitate treatments are available, but these carry a risk for allergic reactions and infection with blood-borne pathogens. The present study was a multinational, open-label, single-arm, phase 3 prophylaxis trial evaluating the efficacy and safety of a novel recombinant FXIII (rFXIII) in congenital FXIII-A subunit deficiency. Forty-one patients ≥ 6 years of age (mean, 26.4; range, 7-60) with congenital FXIII-A subunit deficiency were enrolled. Throughout the rFXIII prophylaxis, only 5 bleeding episodes (all trauma induced) in 4 patients were treated with FXIII-containing products. The crude mean bleeding rate was significantly lower than the historic bleeding rate (0.138 vs 2.91 bleeds/patient/year, respectively) for on-demand treatment. Transient, non-neutralizing, low-titer anti-rFXIII Abs developed in 4 patients, none of whom experienced allergic reactions, any bleeds requiring treatment, or changes in FXIII pharmacokinetics during the trial or follow-up. These non-neutralizing Abs declined below detection limits in all 4 patients despite further exposure to rFXIII or other FXIII-containing products. We conclude that rFXIII is safe and effective in preventing bleeding episodes in patients with congenital FXIII-A subunit deficiency. This study is registered at http://www..clinicaltrials.gov as number NCT00713648.

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