Factor XIII deficiency in two Spanish families with a novel variant in gene F13A1 detected by next-generation sequencing; symptoms and clinical management

Moret, A.; Zúñiga, Ángel; Marco-Ayala, Javier; Liquori, Alessandro; Cid, Ana Rosa; Haya, Saturnino; Ferrando, Fernando; Blanquer, Amando; José, Cervera; Bonanad, Santiago

doi:10.1007/s11239-020-02065-z

Cited by 5 publications

(4 citation statements)

References 8 publications

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“…On the other hand, 17 family members with the same gene variant have the same clinical presentation. [26][27][28][31][32][33][35][36][37]84 Interestingly, all three variants in exon 13 and two variants of exon 7, which account for 50% of all variants with bleeding tendency, are associated with bleeding tendency.…”

Section: Molecular Basis Of Heterozygous Fxiii Deficiencymentioning

confidence: 99%

“…A variety of gene variants have been observed in heterozygous FXIII deficiency, including missense, nonsense, splice site, and small and large deletions throughout F13A gene. 6,11,[25][26][27][28][29][30][31][32][33][34][35][36][37] A total of 49 gene defects were observed throughout F13A gene in heterozygous FXIII deficiency, and most of them (n: 30, 61.2%) were missense, while large deletions were the rarest (n: 3, 6.1%). Although early studies showed that most variants in heterozygous FXIII deficiency are in domains other than the catalytic core, the current pattern of gene variants in heterozygous FXIII deficiency is comparable to the spectrum of F13A gene variants in homozygous (severe) FXIII deficiency, in which 48.8% of variants are missense and 10.5% are nonsense.…”

Section: Molecular Basis Of Heterozygous Fxiii Deficiencymentioning

confidence: 99%

“…Also we found a significant bleeding among heterozygous individuals; these also were common among healthy individuals, except for miscarriage and impaired wound healing. 6 In the literature review, we found 308 individuals with heterozygous FXIII deficiency, of whom almost all bleeding episodes were due to hemostatic challenges such as trauma, surgery, pregnancy, and childbirth 3 11 25 26 27 28 29 30 31 32 33 34 35 36 37 38 39 40 41 42 43 44 45 46 47 48 49 50 51 52 53 54 55 56 57 58 59 60 61 62 63 64 65 66 67 68 69 70 71 72 73 74 75 76 77 78 79 80 81 82 83 84 85 ( Tables 1 and 2 ).…”

Section: Heterozygous Fxiii Deficiencymentioning

confidence: 99%

“…Molecular features of heterozygous factor XIII deficiency and its comparison with severe factor XIII deficiency6,11,[26][27][28][29][30][31][32][33][34][35][36][37][38]85 …”

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Novel Insights into Heterozygous Factor XIII Deficiency

Dorgalaleh¹

2023

Semin Thromb Hemost

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The prevalence and clinical significance of heterozygous factor XIII (FXIII) deficiency has long been debated, with controversial reports emerging since 1988. In the absence of large epidemiologic studies, but based on a few studies, a prevalence of 1 per 1,000 to 5,000 is estimated. In southeastern Iran, a hotspot area for the disorder, a study of more than 3,500 individuals found an incidence of 3.5%. Between 1988 and 2023, a total of 308 individuals were found with heterozygous FXIII deficiency, of which molecular, laboratory, and clinical presentations were available for 207 individuals. A total of 49 variants were found in the F13A gene, most of which were missense (61.2%), followed by nonsense (12.2%) and small deletions (12.2%), most occurring in the catalytic domain (52.1%) of the FXIII-A protein and most frequently in exon 4 (17%) of the F13A gene. This pattern is relatively similar to homozygous (severe) FXIII deficiency. In general, heterozygous FXIII deficiency is an asymptomatic condition without spontaneous bleeding tendency, but it can lead to hemorrhagic complications in hemostatic challenges such as trauma, surgery, childbirth, and pregnancy. Postoperative bleeding, postpartum hemorrhage, and miscarriage are the most common clinical manifestations, while impaired wound healing has been rarely reported. Although some of these clinical manifestations can also be observed in the general population, they are more common in heterozygous FXIII deficiency. While studies of heterozygous FXIII deficiency conducted over the past 35 years have shed light on some of the ambiguities of this condition, further studies on a large number of heterozygotes are needed to answer the major questions related to heterozygous FXIII deficiency.

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Section: Molecular Basis Of Heterozygous Fxiii Deficiencymentioning

confidence: 99%

Section: Molecular Basis Of Heterozygous Fxiii Deficiencymentioning

confidence: 99%

Section: Heterozygous Fxiii Deficiencymentioning

confidence: 99%

“…Molecular features of heterozygous factor XIII deficiency and its comparison with severe factor XIII deficiency6,11,[26][27][28][29][30][31][32][33][34][35][36][37][38]85 …”

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