China
Africa
Explore chapters and articles related to this topic
Case 94
Published in Atul B. Mehta, Keith Gomez, Clinical Haematology, 2017
A 16-year-old boy is referred for screening. He has no significant personal history but there is a strong family history of thrombosis. His father experienced an unprovoked pulmonary embolism (PE) in age 12 and suffered a recurrence in age 23. He was diagnosed with antithrombin deficiency and is now on lifelong anti-coagulation with warfarin. His paternal grandfather had a fatal PE at the age of 30.
Neonatal haematology
Published in Janet M Rennie, Giles S Kendall, A Manual of Neonatal Intensive Care, 2013
Janet M Rennie, Giles S Kendall
Family history can be important: antithrombin deficiency is inherited in an autosomal dominant fashion. Healthy newborns have about half the adult levels of antithrombin III, and levels rise to the adult levels by about 6 months of age. As yet there is no suggestion that the management of newborns with a family history of thrombophilia should be any different from usual.
Combined proteomics and transcriptomics identifies serpin family C member 1 associated protein as a biomarker of endometriosis
Published in Annals of Medicine, 2023
Xiao-yan Li, Xi Wang, Zhi-yue Gu, Ting-ting Sun, Jin-hua Leng, Qi Yu
As Table 2 indicates, SERPINC1 exhibited significant variances in the EM vs. control group on both the transcript and protein level, and these differences were supported by ELISA in the validation set. Validation using ELISA in an independent sample set (n = 44) showed a similar and statistically important trend (p < 0.05). The SERPINC1 gene is located on chromosome 1q23-25 and comprises 6 introns and 7 exons and spans 13.4 kbp of genomic deoxyribonucleic acid [29]. The SERPINC1 gene has a wide range of mutations, according to prior studies. To date, there have been more than 250 reports linking antithrombin deficiency with mutations in the SERPINC1 gene [30]. Mutations in SERPINC1 were discovered via direct sequencing of all seven exons and regulatory areas, as well as multiplex ligation-dependent probe amplification, in 21 families studied by Mulder et al. They found that nearly half of the SERPINC1 mutations were linked to type I antithrombin deficiency. The most common cause of antithrombin deficiency is a mutation in the SERPINC1 gene [30]. Because EM has long been considered a disease characterized by haemorrhage, the down-regulation of SERPINC1 may be associated with the aetiology of EM through the antithrombin pathway, which could lead to dysfunctional anticoagulation.
First Report of an α Chain Variant [Hb Coombe Park (HBA2: c.382A>G)] from India, Coinherited with a Novel SERPINC1 Gene Mutation: A Double Whammy?
Published in Hemoglobin, 2022
Sona B. Nair, Arundhati S. Athalye, Madhavi Panphalia, Firuza R. Parikh
Hereditary antithrombin (AT) deficiency, an important physiological inhibitor of blood coagulation proteases such as thrombin and factor Xa, are associated with high risk of a pro-thrombotic tendency is caused by mutations/variants in the SERPINC1 gene [4]. It is an autosomal disorder with a dominant inheritance pattern and affects about 1/2000 to 1/3000 individuals [5]. Antithrombin deficiency can be classified as a type I (quantitative) and type II (qualitative or functional) deficiency [6]. To date, several mutations have been reported in the SERPINC1 gene affecting the AT structure and function [7]. Antithrombin deficiency is mainly due to heterozygous mutations, as homozygous mutations are very rare and incompatible with life, though there have been reports of few homozygous cases [5].
Incidental descending thoracic aortic thrombus: the conundrum of medical versus surgical therapy
Published in Journal of Community Hospital Internal Medicine Perspectives, 2019
Kay Khine, Amit Toor, Koroush Khalighi, Mahesh Krishnamurthy
Thrombophilic states such as antiphospholipid syndrome, protein C or S deficiency, and APC resistance can be triggering cause for both venous and arterial thrombosis. [8] Generally, venous thrombosis is more frequent but less severe than arterial thrombosis. One of the clinical disorders which has exclusive association with venous thrombosis is antithrombin deficiency. In an aortic thrombus is not a common occurrence as the probability of forming an active thrombus originating from the aorta is low due to constant flow. A mural aortic thrombus may form with aortic dissection, aortic aneurysm, malignancy, and blood disorders and is rarely seen in a healthy subject. Other overlooked risk factors include patients on chemotherapy, smokers, patients with atherosclerosis, and iron deficiency. In the absence of these risk factors, formation of mural aortic thrombi are unlikely. It is hypothesized that mild atherosclerosis not detected on imaging may be a triggering the site for thrombus formation. The feared complication of an aortic thrombus is propagation and distal embolization. Depending on the original location of the thrombus, distal embolization can lead to stroke, mesenteric ischemia, organ dysfunction, and acute limb ischemia. In some studies, the incidence of distal embolization from an aortic thrombus can be as high as 73%. The most common encountered site of thrombus formation has been noted to be either in the distal aortic arch or in the region of the aortic isthmus.