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PubMed1981

Genetic heterogeneity of factor XIII deficiency: first description of unstable A subunits.

In previously reported cases, congenital deficiency of coagulation factor XIII has been found to result from the absence of the enzymatically active A subunits. In the family reported here two members were found to be heterozygous for an unstable A subunit which, in the homozygous state, or in the heterozygous state with the previously described null allele, would be expected to result in factor XIII deficiency. The implications that this new variant has on heterozygote screening are discussed.

Alleles↗
PubMed1998

Novel deletion and insertion mutations cause splicing defects, leading to severe reduction in mRNA levels of the A subunit in severe factor XIII deficiency.

In order to explore molecular mechanisms for factor XIII deficiency, a patient (Nagoya I) was examined at the DNA and RNA levels. Nucleotide sequence analysis of the patient's DNA amplified by PCR revealed that he had a 20 bp deletion at the boundary of exon I/intron A, and an insertion of T in the invariant GT dinucleotide at the splicing donor site of exon IV/intron D. The presence of these heterozygous mutations was confirmed by restriction digestion of the amplified fragments of the proband and his parents. RT-PCR analysis demonstrated that only one kind of mRNA without exon IV was detected in Nagoya I, although its level was greatly reduced to less than 5% of normal. The other detective allele of the A subunit gene containing the 20 bp deletion was not detected. Thus, both mutations impaired normal processing of mRNA for the A subunit, resulting in his severe factor XIII deficiency.

Factor XIII↗
PubMed1981

Factor XIII deficiency.

A girl and her newborn brother with factor XIII deficiency from a family, which has not previously been reported, as described; two other Israeli families are reviewed. The sexes are equally affected. In two of the three families there was consanguinity among the parents. The families fit autosomal recessive inheritance and rule out X-linked recessive mode of transmission. The proposita was born to unrelated healthy parents from the Bnei Israel Jewish community of Bombay. She was re-admitted to hospital at the age of 15 days after umbilical bleeding. Later in infancy there were repeated haematomata and the diagnosis of factor XIII deficiency was established at the age of 1 1/2 years.

Child↗
PubMed1999

[Congenital factor XIII deficiency in pregnancy. A case report].

Congenital factor XIII deficiency is a rare hemorrhagic syndrome with an altered fibrin stability, hemorrhagic diathesis and habitual abortions. After a short introduction, a case report is described and the clinical differences between plasmatic and platelet deficiency pointed out.

Adult↗
PubMed1991

Congenital factor XIII deficiency: two case reports.

Two patients with factor XIII deficiency, presenting with bleeding disorder since birth, are reported. The condition is rare and is likely to be missed unless clot solubility in 5 M urea is performed as a screening test in all patients with bleeding disorders. A correct diagnosis is essential as prophylactic management is practicable in this disorder.

Adult↗
PubMedDate not supplied

Hereditary factor XIII deficiency.

Twelve cases of hereditary factor XIII (FX III) deficiency diagnosed over five years (1986-1990) at Christian Medical College and Hospital, Vellore are presented here. Although all the cases had a history of umbilical cord bleeding and subsequent frequent bleeding episodes, diagnosis was considerably delayed. All but two patients required transfusions for bleeding episodes. Ten patients had a history of consanguinity in parents. Clinical features and family history are described in detail here. The ease of performing the Urea solubility test and problems in it's interpretation are highlighted. The role of prophylactic transfusion is also discussed.

Adolescent↗
PubMedDate not supplied

Factor XIII deficiency and intracranial hemorrhages in infancy.

We report an infant with Factor XIII deficiency who had 2 seemingly spontaneous intracranial hemorrhages. It is important to consider Factor XIII deficiency as a possible cause of unexplained intracranial hemorrhages in infancy. Ongoing factor replacement therapy is recommended to prevent further bleeding episodes.

Blood Coagulation Tests↗
PubMed2002

[Identification of two novel mutation in two Chinese hereditary coagulation factor XIII deficiency families].

OBJECTIVE: To explore gene defect of hereditary coagulation factor XIII deficiency. METHODS: PCR and gene sequencing or ARMS-PCR were used to detect the FXIIIA gene of peripheral white blood cell (PBC) from two Chinese hereditary coagulation factor XIII deficiency family members and 60 normal subjects respectively. The level of FXIIIA gene mRNA was tested by RT-PCR. RESULTS: (1) Nucleotide sequence analysis of the two probands' and their family members' DNA revealed that all of the three patients had homozygous missense mutation in FXIII A subunit gene. Proband 1 had a C to G transition at nucleotide (nt) 1 241 in exon 10 and proband 2 and his sister a C to T transition at nt 232 in exon 3 of FXIII A gene, which resulted in the substitution of Ser413 with Trp and Arg 77 with Cys, respectively. Family study showed that the two mutations were inherited from the parents who were correspondingly heterozygotes at nt 1 241 or nt 232. (2) The two mutations were not found in the normal subjects. (3) The FXIIIA gene mRNA level in the two probands was a little decreasing. CONCLUSION: It is the two novel mutations that results in FXIIIA deficiency. The two mutations of FXIIIA gene may affect its function or alter protein folding. The defective FXIII which is unstable and degraded rapidly in cytoplasm may be the main cause of FXIII deficiency.

Blood Coagulation Disorders, Inherited↗
PubMed1985

A contribution to the pathology of acquired plasma factor XIII deficiency.

The biologic activity of Factor XIII was measured in four groups of patients: 20 with liver cirrhosis, ten with acute DIC, 30 with acute leukemia with DIC, and 20 with acute leukemia without DIC. In all groups, the plasma Factor XIII transamidating activity was reduced, but this deficiency was more evident in patients with DIC alone or with leukemia and DIC. The immunologic determination of the a and b subunits of Factor XIII was also performed. Both subunits were below the normal range in the groups of patients studied, except for subunit b, which was normal in patients with leukemia without coagulopathy. Acute DIC patients showed an equally reduced level of both subunits, whereas in patients with leukemia, even in the presence of a complicating coagulopathy, a lesser decrease of subunit b than subunit a was found. Both subunits were equally reduced in patients with cirrhosis, suggesting an impaired synthesis of these proteins. In conclusion, our findings do not support the use of Factor XIII subunit measurements in distinguishing between thrombin- or protease-mediated consumption coagulopathy, and they seem to suggest that the deficiency pattern of the subunits is not accounted for by a simple pathogenetic mechanism.

Acute Disease↗
PubMed1997

Factor XIII deficiency due to a Leu660Pro mutation in the factor XIII subunit-a gene in three unrelated Palestinian Arab families.

In this report we describe the molecular basis of FXIII a-subunit deficiency in three unrelated Palestinian Arab families. In three patients representing each family two substitutions were identified in exon 14 on both alleles: C to G change resulting in a Gln651Glu substitution (a previously described polymorphism) and a T to C transition causing Leu660Pro substitution. The latter is a new mutation which creates a restriction site for FnuDII enzyme. Restriction analysis performed in members of the three families clearly distinguished between severely affected patients, obligate carriers and unaffected subjects. A population survey failed to detect the mutation among 250 Jewish individuals but did detect two heterozygotes among 300 Arabs suggesting a 0.0033 frequency for the Pro660 allele in this population. In two out of the three families the Pro660 allele was linked to allele 5 of the 5' short tandem repeat polymorphism within the FXIII a-subunit gene suggesting that the mutation might have occurred at least twice. cDNA obtained from mRNA isolated from patients' platelets and monocytes appeared similar in size to that of normal control indicating that the Leu660Pro mutation does not affect mRNA synthesis. Computer modeling based on cristallographic studies of the a-subunit of factor XIII predicted that the mutant protein is expected to misfold into a structure which is either unstable or susceptible to degradation.

Arabs↗
PubMed2002

Clinical and laboratory features of congenital factor XIII deficiency.

OBJECTIVE: This is a retrospective analysis of the clinical and laboratory features of 17 cases of factor XIII deficiency that were followed in tertiary care hospitals in Riyadh, Kingdom of Saudi Arabia, over 20 years. Cases were referred to these hospitals from other health care centers in the country. METHODS: We performed a retrospective analysis of 17 cases of factor XIII deficiency comprising 11 males and 6 females, who were seen over a period of 20 years (1978-1998) in Riyadh, Kingdom of Saudi Arabia. Data variables including age, sex, origin, clinical presentation, bleeding time, prothrombin time, partial thromboplastin time, factor XIII screening and assay, hemoglobin, and platelet count were collected and analyzed. The diagnosis of factor XIII deficiency was made by urea clot lysis test alone in one patient and urea clot lysis test in combination with factor XIII quantitative assay in 16 patients. RESULTS: Eleven patients were males and 6 were females. Median age at the time of diagnosis was 9 years (3-29 years). Ten patients (59%) had a family history of excessive bleeding. Presenting symptoms included ecchymosis and recurrent hematomas in 12 patients (71%), bleeding after circumcision in 6 male patients (55%), umbilical stump bleeding in 7 (41%), poor wound healing and keloids in 3 patients (18%), and intracranial bleeding in 3 patients (18%). Other manifestations included cephalohematoma, abortion, abruptio placenta, and intraperitoneal bleeding (one patient each). Laboratory evaluation revealed a normal prothrombin time, partial thromboplastin time, bleeding time and platelet count in all patients. Factor XIII screening test was positive in all 17 patients tested and assay for factors XIII was <0.06 U/ml in 16 patients tested. CONCLUSION: Our data confirms that factor XIII deficiency is a rare bleeding disorder characterized by variable bleeding manifestations but consistent laboratory findings. The occurrence of keloid in our patient group may reflect the poor quality of the clotting, associated with loss of tensile strength of fibrin polymers, caused by factor XIII deficiency and leading to abnormally large scar formation.

Adolescent↗
PubMed1991

Intraspinal hemorrhage in a child with factor XIII deficiency.

The rarity of spinal cord injuries and hemorrhages and of fibrin-stabilizing factor XIII deficiency during childhood has induced us to report the case of this two-year-old boy with factor XIII deficiency who presented with cervical intraspinal hemorrhage between the C4 and C7 levels as well as paraplegia presumably following a minor trauma. The findings in this patient, who was brought in two weeks after the appearance of the first symptoms, indicate the importance of early diagnosis and early intervention to minimize the extent of the damage from the injury in such cases. The case also points to the need for close follow-up of patients with factor XIII deficiency for CNS bleeding.

Child, Preschool↗
PubMed1987

Successful pregnancy in a woman with congenital factor XIII deficiency treated with substitutive therapy. Report of a second case.

A syndrome of marked fetal wastage is associated with congenital factor XIII deficiency in adult women. A previously unreported case of a woman with factor XIII deficiency is described, in which substitutive treatment with normal plasma or placental factor XIII concentrate permitted two normal pregnancies. Factor XIII activity was maintained above 1-2% with intermittent infusion of 300 ml to 450 ml of plasma every 14 days or of 500 units of concentrate every 21 days. This case confirms the only other case so far reported in which factor XIII substitutive therapy was able to permit a normal pregnancy in a woman with factor XIII deficiency and seems to suggest factor XIII to be involved in the process of annidation.

Abortion, Spontaneous↗
PubMed1978

Studies on factor XIII antigen in congenital factor XIII deficiency. A tentative classification of the disease in two groups.

Immunological and immunofluorescent studies carried out on plasma and platelets of three cases of congenital factor XIII deficiency are reported. Two of these patients were originally thought to have normal factor XIII subunit S and no subunit A. However, repeated assays carried out using different lots of antiserum showed that in reality the patients lacked both subunit S and subunit A. The false positive finding was due to the presence of a anti-factor VIII contaminant in the antiserum originally used. The third patient had a normal subunit S and no subunit A. No factor XIII antigen was found by the indirect immunofluorescent technique in normal, factor XIII deficiency and von Willebrand's disease platelets. On the contrary, by using the non-monospecific antiserum a fluorescent pattern similar to that observed by using an anti-factor VIII antiserum, had been noted. On the basis of the data presented in this paper a tentative classification of factor XIII deficiency in two groups is proposed: Type I is characterized by the lack of both factor XIII subunit S and A. Type II is characterized by a normal subunit S and no subunit A. The need for a re-evaluation of published case of factor XIII deficiency by means of monospecific antisera is indicated.

Antigens↗
PubMed1992

A reversed activity staining procedure for detection of an acquired antibody against factor XIII in a girl with factor XIII deficiency.

A new method for detection of inhibitors against factor XIII is described. Agarose gel electrophoresis with normal platelet poor plasma as a factor XIII source included in the gel was combined with reversed activity staining. The procedure was applied to a 10-year-old girl with factor XIII deficiency where substitution therapy had failed. Plasma samples from the patient inhibited the factor XIII catalysed incorporation of the fluorescent monodansylthiacadaverine into casein at a position corresponding to the migration of gamma-globulins. Treatment with Sepharose-bound protein A effectively adsorbed the factor XIII antibody in the patient's plasma.

Antibodies↗