A retrospective study on clinical manifestations of neonates with FXIII-A deficiency

Naderi, Majid; Cohan, Nader; Shahramian, Iraj; Miri‐Aliabad, Ghasem; Haghpanah, Sezaneh; Imani, Mahmood; Moghadam, Mohamad; Dehvari, Abdollah; Dorgalaleh, Akbar; Karimi, Mehran

doi:10.1016/j.bcmd.2019.04.006

Cited by 5 publications

(5 citation statements)

References 15 publications

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“…With a history of disease running in family, symptoms are usually manifested at birth. History of umbilical cord bleeding, cephalohematoma, spontaneous intraperitoneal or intracranial haemorrhage is usually present in neonates 2. Pregnant women with FXIII deficiency may have recurrent miscarriages.…”

Section: Discussionmentioning

confidence: 99%

Factor XIII deficiency leading to preseptal haematoma post-strabismus surgery

2019

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A young girl with constant exotropia was planned for surgery. Thorough preoperative workup was done and the patient underwent strabismus surgery. The girl developed preseptal haematoma on the third postoperative day with marked chemosis and oozing of blood from the conjunctival cul-de-sac. A history of factor XIII (FXIII) deficiency was later revealed by the caretakers. The patient was admitted and fresh frozen plasma was transfused for 5 days along with intravenous tranexamic acid. Orbital ultrasound and CT scan were done to confirm the location of the haematoma. The child improved significantly after 5 days and the proptosis subsided. FXIII deficiency is a rare form of bleeding disorder that is not revealed on routine coagulation profile tests. Fresh frozen plasma and recombinant FXIII are now available for treatment.

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Section: Discussionmentioning

confidence: 99%

Factor XIII deficiency leading to preseptal haematoma post-strabismus surgery

2019

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“…Enfin, pour des taux de FXIII en moyenne de 16,8 % (0-37,1 %) seules des complications hémorragiquessoit post-traumatiques, soit à la prise de traitement anticoagulant ou antiagrégantétaient rapportées [15]. Une autre étude rétrospective a permis de montrer, chez 27 nouveau-nés, que le diagnostic précoce de déficit en FXIII était réalisé, dans 48 % des cas, devant la survenue d'une HIC [17]. L'étude de la cohorte franc ¸aise s'est intéressée aux expressions cliniques des formes sév eres.…”

Section: Manifestations Cliniquesunclassified

“…Enfin, des auteurs iraniens ont montré l'efficacité du traitement prophylactique chez des patients présentant un déficit sév ere (< 4 %) chez lesquelles des doses de 10 à 26 UI/kg toutes les quatre à six semaines étaient administrées [37]. Ils préconisent un dépistage précoce et une introduction précoce de la prophylaxie [17]. La controverse sur le taux minimal résiduel de FXIII pour prévenir le risque hémorragique et indiquant une prophylaxie, taux qui est compris entre 4 et 15 %, est également la conséquence des difficultés de disposer de méthodes de dosages sensibles et standardisées [16,22,23].…”

Section: Déficit Congénital En Fxiiiunclassified

Inherited Factor XIII deficiency: Diagnosis, prevalence and treatment modalities in 2020

Rugeri¹,

Bouttefroy²,

Jousselme³

et al. 2020

Hématologie

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“…FXIII-A deficiency causes serious bleeding diathesis and deficient patients require regular substitution therapy. [5][6][7] The non-enzymatic FXIII-B subunit prolongs the lifespan of FXIII-A in the circulation and prevents its spontaneous activation. [8][9][10] FXIII-B is a ~80 kDa glycoprotein that contains approximately 8.5% carbohydrate on two N-glycosylation sites (Asn142 and Asn525) in the third and ninth sushi domains.…”

Section: Introductionmentioning

confidence: 99%

“…The cleavage of FXIII‐A by thrombin and the Ca 2+ induced dissociation of the two subunits transform it into an active transglutaminase that cross‐links fibrin chains and α 2 plasmin inhibitor to fibrin. FXIII‐A deficiency causes serious bleeding diathesis and deficient patients require regular substitution therapy 5‐7 . The non‐enzymatic FXIII‐B subunit prolongs the lifespan of FXIII‐A in the circulation and prevents its spontaneous activation 8‐10 .…”

Section: Introductionmentioning

confidence: 99%

N‐glycosylation of blood coagulation factor XIII subunit B and its functional consequence

Hurják

Kovács

Döncző

et al. 2020

Journal of Thrombosis and Haemostasis

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Background The protective/inhibitory B subunits of coagulation factor XIII (FXIII‐B) is a ~80 kDa glycoprotein containing two N‐glycosylation sites. Neither the structure nor the functional role of the glycans on FXIII‐B has been explored. Objective To reveal the glycan structures linked to FXIII‐B, to design a method for deglycosylating the native protein, to find out if deglycosylation influences the dimeric structure of FXIII‐B and its clearance from the circulation. Methods Asparagine‐linked carbohydrates were released from human FXIIII‐B by PNGase F digestion. The released N‐linked oligosaccharides were fluorophore labeled and analyzed by capillary electrophoresis. Structural identification utilized glycan database search and exoglycosidase digestion based sequencing. The structure of deglycosylated FXIII‐B was investigated by gel filtration. The clearance of deglycosylated and native FXIII‐B from plasma was compared in FXIII‐B knock out mice. Results PNGase F completely removed N‐glycans from the denatured protein. Deglycosylation of the native protein was achieved by repeated digestion at elevated PNGase F concentration. The total N‐glycan profile of FXIII‐B featured nine individual structures; three were fucosylated and each structure contained at least one sialic acid. Deglycosylation did not change the native dimeric structure of FXIII‐B, but accelerated its clearance from the circulation of FXIII‐B knock out mice. Conclusion Characterization of the glycan moieties attached to FXIII‐B is reported for the first time. Complete deglycosylation of the native protein was achieved by a deglycosylation workflow. The associated glycan structure is not required for FXIII‐B dimer formation, but it very likely prolongs the half‐life of FXIII‐B in the plasma.

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A retrospective study on clinical manifestations of neonates with FXIII-A deficiency

Cited by 5 publications

References 15 publications

Factor XIII deficiency leading to preseptal haematoma post-strabismus surgery

Factor XIII deficiency leading to preseptal haematoma post-strabismus surgery

Inherited Factor XIII deficiency: Diagnosis, prevalence and treatment modalities in 2020

N‐glycosylation of blood coagulation factor XIII subunit B and its functional consequence

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