A Clinical and Family Study of Factor XIII Deficiency in a New Zealand Family

Hamer, J. W.; Rae, B. A.

doi:10.1111/j.1445-5994.1971.tb02286.x

Cited by 8 publications

(7 citation statements)

References 21 publications

(2 reference statements)

Supporting

Mentioning

Contrasting

Order By: Relevance

“…This difference appears to be unrclatcd to their different electrophoretic F-XZZZA phenotypes, since further study of several normal individuals, both homozygous and heterozygous for the two normal alleles at the F-XIIIA locus, failed to reveal any significant differences in activity. The difference in activity between the two parental samples was not noted in a previous study of this family in New Zealand (Hamer & Rae, 1971) and in this case is most probably attributable to deterioration during transportation to the laboratory in Australia. (1970) Factor XI11 assay by an isotope method.…”

Section: Discussionmentioning

confidence: 42%

“…The family studied was previously described by Hamer & Rae (1971). Unfortunately all family members were not available for the present study.…”

Section: Methodsmentioning

confidence: 99%

“…Electrophoretic analysis of the A subunits of platelet factor X I 1 1 from the family under investigation is shown in comparison with controls exhibiting the three known phenotypes, in Samples from subjects IIz and IP, previously diagnosed as being homozygous for factor X I 1 1 deficiency (Hamer & Rae, 1971), failed to demonstrate any transamidase activity. In comparison, the maternal sample (1') presented a phenotypic pattern similar to that obtained from a F-XIIZA' homozygote, while the paternal sample (I2) presented a pattern similar to that obtained from a F-XIZZA2 homozygote.…”

Section: A Subunitmentioning

confidence: 97%

See 2 more Smart Citations

An Electrophoretic and Quantitative Analysis of Coagulation Factor XIII in Normal and Deficient Subjects

1980

Self Cite

View full text Add to dashboard Cite

Previous electrophoretic studies of the A and B subunits of factor XIII have revealed considerably genetic heterogeneity. The present work investigates the electrophoretic forms and quantitates the A and B subunits in a family with inherited factor XIII deficiency. The data indicate that the deficiency in this family is due to a null allele at the locus controlling the A subunit. All family members were found to have decreased levels of B subunit. The data also indicate that there is no difference in thrombin activated transamidase activity between normal individuals with the three commonly occurring electrophoretic phenotypes of the A subunit.

show abstract

Section: Discussionmentioning

confidence: 42%

“…The family studied was previously described by Hamer & Rae (1971). Unfortunately all family members were not available for the present study.…”

Section: Methodsmentioning

confidence: 99%

Section: A Subunitmentioning

confidence: 97%

See 1 more Smart Citation

An Electrophoretic and Quantitative Analysis of Coagulation Factor XIII in Normal and Deficient Subjects

1980

Self Cite

View full text Add to dashboard Cite

show abstract

“…For each pregnancy, the following data were collected: bleeding during pregnancy and gestational age at the time of bleeding, miscarriage and gestational age at time of miscarriage, prophylactic treatment prior to and/or during pregnancy; mode of delivery; gestational age at delivery, presence of antenatal complications; occurrence of postpartum haemorrhage; other postpartum complications; and neonatal outcome. [10,46] included 13 women who were also reported individually as case reports [11,12,16,17,22,24,28,30,[32][33][34][35]. These 13 cases were included only once, making the total number of women in the review 121 women.…”

Section: Data Extractionmentioning

confidence: 99%

Congenital factor XIII deficiency in women: a systematic review of literature

Sharief

Kadir

2013

Haemophilia

View full text Add to dashboard Cite

Factor XIII (FXIII) deficiency is a rare congenital bleeding disorder. There is a paucity of data in the literature about obstetrics and gynaecological problems in women affected by FXIII deficiency. The aim of this study was to examine gynaecological problems and obstetric complications and outcome in women with congenital FXIII deficiency. An electronic search was performed to identify the published literature on PUBMED, MEDLINE, EMBASE, Journals @OVID and CINAHL Plus databases using the following keywords: 'congenital factor XIII deficiency' AND 'women OR Pregnancy'. A total of 39 relevant articles were found and included in this systematic review; 27 case reports and 12 case series dating from 1964 to 2012. A total of 121 women were identified. Menorrhagia (26%) was the second most common bleeding reported after umbilical bleeding. Ovulation bleeding reported in 8% of women. Among 63 women, 192 pregnancies were reported; of these, 127 (66%) resulted in a miscarriage and 65 (34%) reached viability stage. In 136 pregnancies without prophylactic therapy, 124 (91%) resulted in a miscarriage and 12(9%) progressed to viability stage. Antepartum haemorrhage occurred in 5/65 (8%) pregnancies reaching viability stage while postpartum haemorrhage (PPH) seen in 16 (25%) cases. Women with congenital FXIII deficiency suffer significant bleeding complications. Menorrhagia and ovulation bleeding are common gynaecological problems and more prevalent than reported. Pregnancies in women with FXIII deficiency have a significant risk of miscarriage, placental abruption and PPH if not on prophylaxis treatment.

show abstract

“…We reviewed the clinical features of the joint manifestations of 16 patients previously described (7)(8)(9)(10)(11)(12)(13)(14)(15)(16)(17)(18)(19)(20)(21) (Table 1) and the present case. Previously reported cases of factor XI11 deficiency with insufficient clinical data on the articular disease were not included in this review.…”

mentioning

confidence: 99%

Arthropathy associated with factor XIII deficiency

Thakker

McGehee

Quismorio

1986

Arthritis & Rheumatism

View full text Add to dashboard Cite

A 47-year-old man with congenital factor XI11 deficiency developed recurrent hemarthrosis of the right ankle. He had radiologic evidence of permanent joint damage. A review of the literature revealed that hemarthrosis is not a rare manifestation of factor XI11 deficiency; however, destructive changes in the joints are relatively uncommon in this disorder, in contrast with those changes seen in patients with classic hemophilia ;and arthropathy. The bleeding manifestations of factor :XI11 deficiency are readily correctable by plasma or cryoprecipitate infusions; this may account for the preservation of joint function and structure.Hemarthrosis can be caused by severe trauma to the joint. It is also commonly associated with the heritable disorders of blood coagulation and is reported to occur occasionally as a complication of anticoagulation therapy. Hemophilia A and B, due to the funlctional deficiency of factor VIII (classic hemophilia) and factor IX (Christmas disease), respectively, are probably the most common causes of hemarthrosis. A few patients with severe von Willebrand's disease (l), as well as patients with Glanzrnan's thromFrom the Section of Clinical Immunology and Rheumatic Diseases and the Section

show abstract

A Clinical and Family Study of Factor XIII Deficiency in a New Zealand Family

Abstract: Summary: Factor XIII deficiency in three sisters is reported together with studies of the inheritance based on the transamidase activity utilising 14C‐glycine ethyl ester. The classical clinical picture, treatment and the findings in this family are discussed.

Cited by 8 publications

References 21 publications

An Electrophoretic and Quantitative Analysis of Coagulation Factor XIII in Normal and Deficient Subjects

An Electrophoretic and Quantitative Analysis of Coagulation Factor XIII in Normal and Deficient Subjects

Congenital factor XIII deficiency in women: a systematic review of literature

Arthropathy associated with factor XIII deficiency

Contact Info

Product

Resources

About