Clinical Phenotype and Genetic Analysis of Twins With Congenital Coagulation Factor V Deficiency

Wei, Yan-Hui; He, Yu-Zhuo; Guo, Xuejun

doi:10.1097/mph.0000000000002261

Cited by 3 publications

(2 citation statements)

References 20 publications

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“…Symptoms include soft tissue or mucosal hemorrhages; fatal hemorrhages; profuse (nasal and menstrual) hemorrhages; bleeding during major and even minor surgical procedures and dental procedures; hematomas; and gastrointestinal, pulmonary, and intracranial hemorrhages. There is often no correspondence between FV plasma levels and the severity of symptoms [ 50 , 55 , 56 ]. Three degrees of factor V deficiency have been established: mild (>10% of normal plasma levels), moderate (1–10%), and severe (<1%) [ 50 ].…”

Section: Coagulopathies: Dysregulation Of Hemostasismentioning

confidence: 99%

The Magic of Proteases: From a Procoagulant and Anticoagulant Factor V to an Equitable Treatment of Its Inherited Deficiency

Pablo-Moreno

Miguel-Batuecas

Sancha

et al. 2023

IJMS

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Proteostasis, i.e., the homeostasis of proteins, responsible for ensuring protein turnover, is regulated by proteases, which also participate in the etiopathogenesis of multiple conditions. The magic of proteases is such that, in blood coagulation, one same molecule, such as coagulation factor V, for example, can perform both a procoagulant and an anticoagulant function as a result of the activity of proteases. However, this magic has an insidious side to it, as it may also prevent the completion of the clinical value chain of factor V deficiency. This value chain encompasses the discovery of knowledge, the transfer of this knowledge, and its translation to clinical practice. In the case of rare and ultra-rare diseases like factor V deficiency, this value chain has not been completed as the knowledge acquisition phase has dragged out over time, holding up the transfer of knowledge to clinical practice. The reason for this is related to the small number of patients afflicted with these conditions. As a result, new indications must be found to make the therapies cost-effective. In the case of factor V, significant research efforts have been directed at developing a recombinant factor V capable of resisting the action of the proteases capable of inactivating this factor. This is where bioethics and health equity considerations come into the equation.

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Section: Coagulopathies: Dysregulation Of Hemostasismentioning

confidence: 99%

The Magic of Proteases: From a Procoagulant and Anticoagulant Factor V to an Equitable Treatment of Its Inherited Deficiency

Pablo-Moreno

Miguel-Batuecas

Sancha

et al. 2023

IJMS

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“…A blood sample from the patient was sent to Guangzhou KingMed Diagnostics Group Co., Ltd., for whole-exome sequencing to identify possible mutations. Genomic DNA collection and whole-exome sequencing were performed according to the manufacturer's instructions as previously described ( 20 ). A novel mutation in ANK1, c.4707G>A (p.Trp1569*), was identified in the patient.…”

Section: Case Reportmentioning

confidence: 99%

Identification of a novel ANK1 mutation in a Chinese family with hereditary spherocytosis: A case report

et al. 2022

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The present study describes the clinical profile and ankyrin 1 (ANK1) mutation status of a Chinese family with hereditary spherocytosis (HS). A young male patient (proband) was diagnosed with HS after presenting with anaemia and jaundice. The Coombs test was negative and spherocytes were found in peripheral blood smears. Magnetic resonance imaging showed splenomegaly and splenic iron depositions. The red blood cell osmotic fragility test was positive. The eosin-5'-maleimide binding test showed reduced mean channel fluorescence. Whole-exome sequencing revealed a novel ANK1 mutation (c.4707G>A), resulting in a nonsense mutation (p.Trp1569*). The patient's father, paternal aunt and paternal grandmother exhibited comparable clinical symptoms and Sanger sequencing confirmed the same mutation in these family members. To the best of our knowledge, an HS pedigree with this novel ANK1 nonsense mutation has not been previously reported. At the same time, the unique clinical presentation of this pedigree helps our understanding of the heterogeneity of clinical manifestations of HS.

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Clinical, Laboratory, and Molecular Aspects of Factor V Deficiency

Franchini,

Focosi

2024

Semin Thromb Hemost

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Factor V (FV) is a glycoprotein that plays a pivotal role in hemostasis, being involved in coagulant and anticoagulant pathways. Congenital FV deficiency is a rare bleeding disorder with an incidence of 1 per million live births, considering the most severe homozygous form. FV deficiency is diagnosed using routine coagulation tests and FV activity assays. Several mutations, including missense, nonsense, and frameshift, have been detected in the F5 gene. Clinical symptoms are variable, ranging from mild ecchymoses and mucosal bleeding to life-threatening intracranial hemorrhage. The mainstay of treatment includes fresh-frozen plasma, preferentially virus-inactivated. In this narrative review, we provide an update of the main laboratory, molecular, clinical, and therapeutic features of inherited FV deficiency.

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Clinical Phenotype and Genetic Analysis of Twins With Congenital Coagulation Factor V Deficiency

Cited by 3 publications

References 20 publications

The Magic of Proteases: From a Procoagulant and Anticoagulant Factor V to an Equitable Treatment of Its Inherited Deficiency

The Magic of Proteases: From a Procoagulant and Anticoagulant Factor V to an Equitable Treatment of Its Inherited Deficiency

Identification of a novel ANK1 mutation in a Chinese family with hereditary spherocytosis: A case report

Clinical, Laboratory, and Molecular Aspects of Factor V Deficiency

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