Laboratory Diagnosis of Factor XIII Deficiency, Routine Coagulation Tests with Quantitative and Qualitative Methods

Dorgalaleh, Akbar; Kazemi, Ahmad; Zaker, Farhad; Shamsizadeh, Morteza; Rashidpanah, Jamal; Mollaei, Mojtaba

doi:10.7754/clin.lab.2015.150619

Cited by 7 publications

(14 citation statements)

References 0 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…Heterozygotes of FXIIID are diagnosed by quantitative assays such as amine incorporation and ammonia release. 9,[15][16][17] In regions with a high rate of consanguineous marriage, the number of patients with RBDs such as FXIIID is significantly higher. The prevalence of FXIIID in Iran is very much higher than its overall frequency in the rest of the world-Iran had 473 patients in 2014, with an additional 10 new cases in 2016, a total of 483.…”

Section: Introductionmentioning

confidence: 99%

See 1 more Smart Citation

Molecular Basis of Congenital Factor XIII Deficiency in Iran

Dorgalaleh

Assadollahi

Tabibian

et al. 2016

Clin Appl Thromb Hemost

Self Cite

View full text Add to dashboard Cite

Factor XIII deficiency (FXIIID) is an extremely rare autosomal recessive disorder that has the highest incidence in Iran. The FXIIID is primarily due to mutations in the FXIII-A gene, most of which are unique. In the current study, we report all identified mutations among Iranian patients. Among 483 patients, 366 (75.8%) were molecularly analyzed; 11 different mutations were observed. Of 11, 8 (72.7%) are missense, whereas the remaining 3 (27.3%) are deletion/insertion. Among these patients, 347 (94.9%) had the unique mutation of c.562T>C and 5 (1.4%) had the c.233G>A mutation. c.1226G>A, c.2111G>A, and c.1142T>A are also common, whereas other mutations, including 3 missense and 3 deletion/insertion, were observed only in single patient. Although, in most cases, FXIII mutations are unique and restricted to a specific family, this differs in Iran where a considerable number of identified mutations, recurrently observed, appear to be due to the high rate of consanguinity.

show abstract

Section: Introductionmentioning

confidence: 99%

“…Heterozygotes of FXIIID are diagnosed by quantitative assays such as amine incorporation and ammonia release. 9,15 –17…”

Section: Introductionmentioning

confidence: 99%

Molecular Basis of Congenital Factor XIII Deficiency in Iran

Dorgalaleh

Assadollahi

Tabibian

et al. 2016

Clin Appl Thromb Hemost

Self Cite

View full text Add to dashboard Cite

show abstract

“…clearly revealed removal of factor XIII from circulation during double filtration plasmapheresis, which will still result in normal PT with INR and requires thromboelastography or clot lysis test for detection. [ 11 13 14 ]…”

Section: Discussionmentioning

confidence: 99%

Effect of double filtration plasmapheresis on various plasma components and patient safety: A prospective observational cohort study

Jagdish¹,

Jacob²,

Varughese³

et al. 2017

Indian J Nephrol

View full text Add to dashboard Cite

Double filtration plasmapheresis (DFPP) was historically used for blood group incompatible renal transplantation. Very few studies are available worldwide regarding its efficiency in removing specific plasma components, and safety. We conducted a prospective observational cohort study over 1 year on patients undergoing DFPP for various renal indications. There were 15 patients with 39 sessions. The pre- and post-procedure plasma samples of serum IgG, IgA, IgM, fibrinogen, calcium, phosphate, potassium, and magnesium were analyzed. The effluent albumin concentration was also measured, and complications during the hospital stay were recorded. Cumulative removal of serum IgG, IgA, IgM, fibrinogen, and albumin at the end of four sessions were 72%, 89%, 96%, 88.5%, and 21.3%, respectively and effluent albumin concentration was 1.75 – 2.0 times (range: 6.3 g/dl – 7.2 g/dl; mean ± standard deviation (SD) – 7 g/dl ± 0.3 g/dl) the preprocedural serum albumin (mean ± SD – 3.5 g/dl ± 0.5 g/dl). Removal of other plasma components were not statistically significant. Hypotensive episodes were observed only 16.6%, with the usage of effluent concentration albumin as replacement fluid despite an average 2.4 (mean ± SD – 2.4 ± 0.4 l) liters of plasma volume processing each session. DFPP removes IgG, IgA, IgM, fibrinogen, and albumin. The cumulative removal IgG (72%) is suboptimal, whereas IgA (89%) and IgM (96%) are comparable to historical controls. We observed lesser episodes (12.5%) of hypotension with effluent albumin concentration as replacement fluid, and all bleeding complications were observed when serum fibrinogen level was <50 mg/dl.

show abstract

“…Therefore, the FXIII activity assay should be performed as soon as FXIII deficiency is suspected. 2,3 Coagulation FXIII is a pro-γ-transglutaminase found in plasma as a heterotetramer (FXIII-A2B2) comprising of two catalytic subunits (FXIII-A2) and two carrier subunits (FXIII-B2). The FXIII plasma levels are often not quantifiable in patients with severe FXIII deficiency (homozygous), whereas they are about 50%-70% of normal in those with a heterozygous defect.…”

Section: Tailored Prophylaxis With Rfxiii (Novothirteen ® ) In a Younmentioning

confidence: 99%

Tailored prophylaxis with rFXIII (NovoThirteen^®) in a young girl with severe FXIII deficiency and previous cephalohaematoma

et al. 2019

View full text Add to dashboard Cite

Laboratory Diagnosis of Factor XIII Deficiency, Routine Coagulation Tests with Quantitative and Qualitative Methods

Cited by 7 publications

References 0 publications

Molecular Basis of Congenital Factor XIII Deficiency in Iran

Molecular Basis of Congenital Factor XIII Deficiency in Iran

Effect of double filtration plasmapheresis on various plasma components and patient safety: A prospective observational cohort study

Tailored prophylaxis with rFXIII (NovoThirteen^®) in a young girl with severe FXIII deficiency and previous cephalohaematoma

Contact Info

Product

Resources

About

Laboratory Diagnosis of Factor XIII Deficiency, Routine Coagulation Tests with Quantitative and Qualitative Methods

Cited by 7 publications

References 0 publications

Molecular Basis of Congenital Factor XIII Deficiency in Iran

Molecular Basis of Congenital Factor XIII Deficiency in Iran

Effect of double filtration plasmapheresis on various plasma components and patient safety: A prospective observational cohort study

Tailored prophylaxis with rFXIII (NovoThirteen®) in a young girl with severe FXIII deficiency and previous cephalohaematoma

Contact Info

Product

Resources

About

Tailored prophylaxis with rFXIII (NovoThirteen^®) in a young girl with severe FXIII deficiency and previous cephalohaematoma