Factor V Deficiency
Factor V
Molecular analysis of the ERGIC-53 gene in 35 families with combined factor V-factor VIII deficiency. (1/73)
Combined factor V-factor VIII deficiency (F5F8D) is a rare, autosomal recessive coagulation disorder in which the levels of both coagulation factors V and VIII are diminished. The F5F8D locus was previously mapped to a 1-cM interval on chromosome 18q21. Mutations in a candidate gene in this region, ERGIC-53, were recently found to be associated with the coagulation defect in nine Jewish families. We performed single-strand conformation and sequence analysis of the ERGIC-53 gene in 35 F5F8D families of different ethnic origins. We identified 13 distinct mutations accounting for 52 of 70 mutant alleles. These were 3 splice site mutations, 6 insertions and deletions resulting in translational frameshifts, 3 nonsense codons, and elimination of the translation initiation codon. These mutations are predicted to result in synthesis of either a truncated protein product or no protein at all. This study revealed that F5F8D shows extensive allelic heterogeneity and all ERGIC-53 mutations resulting in F5F8D are "null." Approximately 26% of the mutations have not been identified, suggesting that lesions in regulatory elements or severe abnormalities within the introns may be responsible for the disease in these individuals. In two such families, ERGIC-53 protein was detectable at normal levels in patients' lymphocytes, raising the further possibility of defects at other genetic loci. (+info)ERGIC-53 gene structure and mutation analysis in 19 combined factors V and VIII deficiency families. (2/73)
Combined factors V and VIII deficiency is an autosomal recessive bleeding disorder associated with plasma levels of coagulation factors V and VIII approximately 5% to 30% of normal. The disease gene was recently identified as the endoplasmic reticulum-Golgi intermediate compartment protein ERGIC-53 by positional cloning, with the detection of two founder mutations in 10 Jewish families. To identify mutations in additional families, the structure of the ERGIC-53 gene was determined by genomic polymerase chain reaction (PCR) and sequence analysis of bacterial artificial chromosome clones containing the ERGIC-53 gene. Nineteen additional families were analyzed by direct sequence analysis of the entire coding region and the intron/exon junctions. Seven novel mutations were identified in 10 families, with one additional family found to harbor one of the two previously described mutations. All of the identified mutations would be predicted to result in complete absence of functional ERGIC-53 protein. In 8 of 19 families, no mutation was identified. Genotyping data indicate that at least two of these families are not linked to the ERGIC-53 locus. Taken together, these results suggest that a significant subset of combined factors V and VIII deficiency is due to mutation in one or more additional genes. (+info)Thrombophilia as a multigenic disease. (3/73)
BACKGROUND AND OBJECTIVE: Venous thrombosis is a common disease annually affecting 1 in 1000 individuals. The multifactorial nature of the disease is illustrated by the frequent identification of one or more predisposing genetic and/or environmental risk factors in thrombosis patients. Most of the genetic defects known today affect the function of the natural anticoagulant pathways and in particular the protein C system. This presentation focuses on the importance of the genetic factors in the pathogenesis of inherited thrombophilia with particular emphasis on those defects which affect the protein C system. INFORMATION SOURCES: Published results in articles covered by the Medline database have been integrated with our original studies in the field of thrombophilia. STATE OF THE ART AND PERSPECTIVES: The risk of venous thrombosis is increased when the hemostatic balance between pro- and anti-coagulant forces is shifted in favor of coagulation. When this is caused by an inherited defect, the resulting hypercoagulable state is a lifelong risk factor for thrombosis. Resistance to activated protein C (APC resistance) is the most common inherited hypercoagulable state found to be associated with venous thrombosis. It is caused by a single point mutation in the factor V (FV) gene, which predicts the substitution of Arg506 with a Gln. Arg506 is one of three APC-cleavage sites and the mutation results in the loss of this APC-cleavage site. The mutation is only found in Caucasians but the prevalence of the mutant FV allele (FV:Q506) varies between countries. It is found to be highly prevalent (up to 15%) in Scandinavian populations, in areas with high incidence of thrombosis. FV:Q506 is associated with a 5-10-fold increased risk of thrombosis and is found in 20-60% of Caucasian patients with thrombosis. The second most common inherited risk factor for thrombosis is a point mutation (G20210A) in the 3' untranslated region of the prothrombin gene. This mutation is present in approximately 2% of healthy individuals and in 6-7% of thrombosis patients, suggesting it to be a mild risk factor of thrombosis. Other less common genetic risk factors for thrombosis are the deficiencies of natural anticoagulant proteins such as antithrombin, protein C or protein S. Such defects are present in less than 1% of healthy individuals and together they account for 5-10% of genetic defects found in patients with venous thrombosis. Owing to the high prevalence of inherited APC resistance (FV:Q506) and of the G20210A mutation in the prothrombin gene, combinations of genetic defects are relatively common in the general population. As each genetic defect is an independent risk factor for thrombosis, individuals with multiple defects have a highly increased risk of thrombosis. As a consequence, multiple defects are often found in patients with thrombosis. (+info)Gene-gene and gene-environment interactions determine risk of thrombosis in families with inherited antithrombin deficiency. (4/73)
To analyze inherited antithrombin deficiency as a risk factor for venous thromboembolism in various conditions with regard to the presence or absence of additional genetic or acquired risk factors, we compared 48 antithrombin-deficient individuals with 44 nondeficient individuals of 14 selected families with inherited antithrombin deficiency. The incidence of venous thromboembolism for antithrombin deficient individuals was 20 times higher than among nondeficient individuals (1.1% v 0.05% per year). At the age of 50 years, greater than 50% of antithrombin-deficient individuals had experienced thrombosis compared with 5% of nondeficient individuals. Additional genetic risk factors, Factor V Leiden and PT20210A, were found in more than half of these selected families. The effect of exposure to 2 genetic defects was a 5-fold increased incidence (4.6% per year; 95% confidence interval [CI], 1.9% to 11.1%). Acquired risk factors were often present, determining the onset of thrombosis. The incidence among those with exposure to antithrombin deficiency and an acquired risk factor was increased 20-fold (20.3% per year; 95% CI, 12.0% to 34.3%). In conclusion, in these thrombophilia families, the genetic and environmental factors interact to bring about venous thrombosis. Inherited antithrombin deficiency proves to be a prominent risk factor for venous thromboembolism. The increased risks among those with exposure to acquired risk factors should be considered and adequate prophylactic anticoagulant therapy in high-risk situations seems indicated in selected families with inherited antithrombin deficiency. (+info)Factor V Leiden and antiphospholipid antibodies are significant risk factors for ischemic stroke in children. (5/73)
BACKGROUND AND PURPOSE: The association between ischemic childhood stroke and thrombophilia has been debated. We studied the prevalence of thrombophilia risk factors in 65 unrelated children with ischemic stroke compared with 145 control subjects. METHODS: Patients and control subjects were tested for antithrombin protein C and protein S deficiencies, the presence of antiphospholipid antibodies (APLA), factor V Leiden (FVL), G20210A polymorphism of factor II gene (FII G20210A), and C677T polymorphism of 5,10-methylenetetrahydrofolate reductase gene (C677T MTHFR). RESULTS: Of 65 children, 7 had a stroke in the neonatal/perinatal period and therefore were analyzed separately. Thirty-one of the remaining 58 patients with pediatric stroke (53.4%) were found to have at least 1 thrombophilia marker compared with only 25.5% of control subjects. None of the patients or control subjects had protein S or antithrombin III deficiency. The prevalence of protein C deficiency was higher among pediatric stroke patients than among control subjects, but the difference was not statistically significant (OR=7, 95% CI 0.75 to 65.1). Heterozygous FII G20210A and homozygous MTHFR 677T were not associated with an increased risk for stroke (OR=1.29, 95% CI 0.2 to 8.2; and OR=1.06, 95% CI 0.4 to 2.7, respectively). In contrast, the presence of APLA was associated with a >6-fold risk of stroke (OR=6. 08, 95% CI 1.5 to 24.3), and the heterozygosity for FVL increased the risk of stroke by almost 5-fold (OR=4.82, 95% CI 1.4 to 16.5). Five patients with pediatric stroke had a combination of > or =2 thrombophilia markers, whereas none of the control subjects had a combination of the markers. Most of the patients with neonatal/perinatal stroke were found to have at least 1 thrombophilia marker. CONCLUSIONS: These data suggest that the prevalence of thrombophilia markers is increased in children with stroke compared with control subjects and, specifically, that FVL and APLA contribute significantly to stroke occurrence. (+info)A missense mutation (Y1702C) in the coagulation factor V gene is a frequent cause of factor V deficiency in the Italian population. (6/73)
BACKGROUND AND OBJECTIVES: Factor V (FV) deficiency is a rare bleeding disorder whose molecular bases are poorly characterized. We have recently described a FV missense mutation (Y1702C) predicting reduced FV levels in a thrombophilic patient and in a healthy individual. The aim of the present work was to assess the prevalence of the FV Y1702C mutation among subjects with FV deficiency. DESIGN AND METHODS: Carriership of the FV Y1702C mutation was tested in 8 patients with severe FV deficiency (FV:C <8%), in 16 individuals with asymptomatic partial FV deficiency (mean FV:C 38.0%, SD 11.6%) and in 9 patients with pseudo-homozygous APC-resistance (mean FV:C 46.2%, SD 3.6%). An AccI-restriction protocol was employed for rapid mutation screening. RESULTS: The FV Y1702C mutation was detected in two unrelated patients with unmeasurable FV levels (one being homozygous and the other doubly heterozygous for a still unknown mutation) and in one subject with partial FV deficiency (FV:C 30%). A striking difference in bleeding phenotype was observed between the homozygous patient and her asymptomatic brother with the same FV genotype. A multi-point FV haplotype analysis was performed in all unrelated carriers of the FV Y1702C mutation. Three haplotypes were found to underlie the mutation in different individuals, suggesting that it might have arisen independently more than once. INTERPRETATION AND CONCLUSIONS: FV Y1702C is a common cause of FV deficiency in the Italian population and might be a recurrent mutation. (+info)Five novel mutations in the gene for human blood coagulation factor V associated with type I factor V deficiency. (7/73)
Coagulation factor V (FV) plays an important role in maintaining the hemostatic balance in both the formation of thrombin in the procoagulant pathway as well as in the protein C anticoagulant pathway. FV deficiency is a rare bleeding disorder with variable phenotypic expression. Little is known about the molecular basis underlying this disease. This study identified 5 novel mutations associated with FV deficiency in 3 patients with severe FV deficiency but different clinical expression and 2 unaffected carriers. Four mutations led to a premature termination codon either by a nonsense mutation (single-letter amino acid codes): A1102T, K310Term. (FV Amersfoort) and C2491T, Q773Term. (FV Casablanca) or a frameshift: an 8-base pair deletion between nucleotides 1130 and 1139 (FV Seoul(1)) and a 1-base pair deletion between nucleotides 4291 and 4294 (FV Utrecht). One mutation was a novel missense mutation: T1927C, C585R (FV Nijkerk), resulting in the absence of mutant protein despite normal transcription to RNA. Most likely, an arginine at this position disrupts the hydrophobic interior of the FV A2 domain. The sixth detected mutation was a previously reported missense mutation: A5279G, Y1702C (FV Seoul(2)). In all cases, the presence of the mutation was associated with type I FV deficiency. Identifying the molecular basis of mutations underlying this rare coagulation disorder will help to obtain more insight into the mechanisms involved in the variable clinical phenotype of patients with FV deficiency. (+info)Late presentation of congenital factor V deficiency--a case report. (8/73)
Congenital factor deficiency is a rare coagulation disorder, which is inherited in an autosomal recessive manner. The severity of bleeding symptoms in general is only partially related to the degree of factor V deficiency in plasma. In this report, a boy presenting with hemarthrosis in his late adolescence due to congenital factor V deficiency is reported. (+info)Factor V deficiency is a rare bleeding disorder that is caused by a mutation in the gene that produces coagulation factor V, a protein involved in the clotting process. This condition can lead to excessive bleeding following injury or surgery, and may also cause menorrhagia (heavy menstrual periods) in women.
Factor V deficiency is inherited in an autosomal recessive manner, meaning that an individual must inherit two copies of the mutated gene (one from each parent) in order to develop the condition. People who inherit only one copy of the mutated gene are carriers and may have a milder form of the disorder or no symptoms at all.
Treatment for factor V deficiency typically involves replacement therapy with fresh frozen plasma or clotting factor concentrates, which can help to reduce bleeding episodes and prevent complications. In some cases, medications such as desmopressin or antifibrinolytics may also be used to manage the condition.
Factor V, also known as proaccelerin or labile factor, is a protein involved in the coagulation cascade, which is a series of chemical reactions that leads to the formation of a blood clot. Factor V acts as a cofactor for the activation of Factor X to Factor Xa, which is a critical step in the coagulation cascade.
When blood vessels are damaged, the coagulation cascade is initiated to prevent excessive bleeding. During this process, Factor V is activated by thrombin, another protein involved in coagulation, and then forms a complex with activated Factor X and calcium ions on the surface of platelets or other cells. This complex converts prothrombin to thrombin, which then converts fibrinogen to fibrin to form a stable clot.
Deficiency or dysfunction of Factor V can lead to bleeding disorders such as hemophilia B or factor V deficiency, while mutations in the gene encoding Factor V can increase the risk of thrombosis, as seen in the Factor V Leiden mutation.
Hemorrhagic disorders are medical conditions characterized by abnormal bleeding due to impaired blood clotting. This can result from deficiencies in coagulation factors, platelet dysfunction, or the use of medications that interfere with normal clotting processes. Examples include hemophilia, von Willebrand disease, and disseminated intravascular coagulation (DIC). Treatment often involves replacing the missing clotting factor or administering medications to help control bleeding.
Factor I deficiency
Factor VII deficiency
Factor X deficiency
Factor XIII deficiency
Factor XII deficiency
Properdin deficiency
GATA2 deficiency
Chromium deficiency
Fluorine deficiency
Phenol sulfur transferase deficiency
Vitamin B12 deficiency
Iodine deficiency
Iron-deficiency anemia
Iron deficiency
Folate deficiency
Factor XI
Hypoprothrombinemia
Maurice Pechet
Haemophilia C
Intrinsic factor
Plasminogen activator
Galactose epimerase deficiency
Adenosine monophosphate deaminase deficiency type 1
Alpha-1 antitrypsin deficiency
Semen quality
PULHES Factor
Vitamin D deficiency
Biotin deficiency
Factor V
Elongation factor
Factor X deficiency: MedlinePlus Genetics
Factor XI Deficiency: Practice Essentials, Background, Pathophysiology
Factor I deficiency - Wikipedia
Pediatric Factor XIII Deficiency Differential Diagnoses
Factor II Deficiency Workup: Laboratory Studies
Factor XI Deficiency: Practice Essentials, Background, Pathophysiology
Factor Deficiency in Females - The Painted Turtle
Mcfd2 MGI Mouse Gene Detail - MGI:2183439 - multiple coagulation factor deficiency 2
Folate (vitamin B9) deficiency anemia: Causes, symptoms, risk factors, treatment and prevention - NaturalNews.com
Membrane Omega-3 Fatty Acid Deficiency as a Preventable Risk Factor for Comorbid Coronary Heart Disease in Major Depressive...
A Compound Heterozygosis of Two Novel Mutations Causes Factor X Deficiency in a Chinese Pedigree | Acta Haematologica | Karger...
Factor VII Deficiency | Profiles RNS
How Nutrient Deficiencies Deplete Energy Levels | Natural Factors USA
Factor X deficiency - GPnotebook
AID 1620567 - Inhibition of TFPI in plasma isolated from human patient with factor-9 deficiency assessed as increase in...
Alpha1-antitrypsin deficiency (PiZ) may be a risk factor for duodenal ulcer in patients with Helicobacter pylori infection |...
Vitamin D Deficiency : व्हिटॅमिन डीच्या कमतरतेमुळे हृदयविकाराचा धोका वाढतो? वाचा तज्ज्ञ काय सांगतात.. | Vitamin D ...
Complement C4 Deficiency - A Plausible Risk Factor for Non-Tuberculous Mycobacteria (NTM) Infection in Apparently...
Prevalence of Vitamin D and Calcium Deficiency and Insufficiency in Women of Childbearing Age and Associated Risk Factors: A...
Factor V Deficiency Differential Diagnoses
Factor XI Deficiency: Background, Pathophysiology, Epidemiology
Meningococcal Disease Risk Factors | CDC
Folate deficiency: Symptoms, complications, and treatment
Vitamin B12 deficiency: a factor that induces depression?
Zinc Deficiency: Symptoms, Diagnosis, and More
Hemophilia B (Factor IX Deficiency) - Acquired - Cancer Therapy Advisor
Nutrients | Free Full-Text | A Personalised Dietary Approach-A Way Forward to Manage Nutrient Deficiency, Effects of the...
Biotin Deficiency: Side Effects, Causes, and More
Paw Print Genetics - Coagulation Factor VII Deficiency in the Alaskan Husky
Hemophilia16
- unlike the soft tissue bleeds and hemarthroses that characterize hemophilia A and B, abnormal bleeding in FXI deficiency typically involves mucosal tissues, which are rich in fibrinolytic activity (eg, the oral and nasal cavities and urinary tract). (medscape.com)
- The coagulation defect in plasma from these patients was corrected on mixing with plasma from patients with hemophilia, indicating that these patients lacked a factor different from those involved in hemophilia. (medscape.com)
- [ 1 ] This disorder was found in both sexes and was understood to be inherited but was identified as being a less severe abnormality than that observed with hemophilia A and B. Hence, older terms for this disorder included Rosenthal syndrome, PTA deficiency, and hemophilia C. (medscape.com)
- Other terms for this disorder include plasma thromboplastin antecedent (PTA) deficiency, Rosenthal syndrome, and hemophilia C (see image below). (medscape.com)
- Such an antibody can also appear in a patient with hemophilia B (factor IX deficiency) following treatment with factor IX, either prophylactically or to treat a bleeding episode. (cancertherapyadvisor.com)
- Some patients with hemophilia B will develop inhibitors on exposure to factor IX. (cancertherapyadvisor.com)
- Acquired factor IX deficiency can be differentiated from a simple congenital factor IX deficiency (i.e., hemophilia B) by a number of ways. (cancertherapyadvisor.com)
- Hemophilia B patients typically have bleeding from early childhood, whereas patients with acquired factor IX deficiency do not typically show a lifelong history of bleeding. (cancertherapyadvisor.com)
- The presence of a low factor IX level that has not been present from birth or a low factor IX level in a hemophilia B patient that has been decreased following exposure to a product containing factor IX are both indicative of a factor IX deficiency. (cancertherapyadvisor.com)
- 26 May 2018 Factor XI Deficiency is a genetically inherited disease that's a form of hemophilia. (firebaseapp.com)
- BACKGROUND Factor XI deficiency, also known as hemophilia C, is a rare inherited bleeding disorder that may leave routine coagulation parameters within normal range. (uniroma1.it)
- Three patients are known to have had risk factors for AIDS other than hemophilia. (cdc.gov)
- With the exception of one 31-year-old factor V-deficient individual with Kaposi's sarcoma (and without risk factors for AIDS other than his hemophilia), each patient had at least one opportunistic infection suggestive of an underlying cellular immune deficiency. (cdc.gov)
- These nine persons had no risk factors for AIDS other than hemophilia. (cdc.gov)
- In cooperation with numerous hemophilia treatment centers and physicians, CDC has studied over 200 recipients of factor VIII and 36 recipients of factor IX concentrates containing materials from U.S. donors. (cdc.gov)
- While many U.S. hemophilia-associated AIDS patients have received blood products other than factor concentrates in the 5 years preceding their AIDS diagnosis, the occurrence of nine cases with no known risk factor or exposure other than the use of factor VIII preparations implicates these products as potential vehicles of AIDS transmission. (cdc.gov)
Coagulation factor deficiencies4
- Consider other congenital coagulation factor deficiencies, most notably afibrinogenemia. (medscape.com)
- Todd T, J Perry D. A review of long-term prophylaxis in the rare inherited coagulation factor deficiencies. (medscape.com)
- Also Available In: Japanese This resource has also been translated into the following languages, with permission from the WFH, by NMOs: Traditional Chinese This patient handbook contains basic information about the inheritance, diagnosis, symptoms and management of rare coagulation factor deficiencies. (wfh.org)
- These findings suggest compensatory U1-snRNAs as therapeutic tools in coagulation factor deficiencies caused by mutations at 5'ss, a frequent cause of severe defects. (unife.it)
Diagnosis10
- Diagnosis and treatment of inherited factor X deficiency. (medlineplus.gov)
- Karimi M, Peyvandi F, Naderi M, Shapiro A. Factor XIII deficiency diagnosis: challenges and tools. (medscape.com)
- Diagnosis is by specific factor assay. (gpnotebook.com)
- The diagnosis of such hereditary forms is confirmed by stable, life-long insufficiency of factor I, as well as hypofibrinogenemia in the parents and other blood relatives of the patient. (treatment-diabetes-info.com)
- Explains the causes of Factor I deficiency, its symptoms, diagnosis and treatment. (hfq.org.au)
- Several laboratory tests are commonly used to screen for or establish a diagnosis of chronic iron deficiency. (med-life.net)
- My answer: Your physician may choose to double-check the diagnosis of protein C and protein S deficiency. (fritsmafactor.com)
- Aside from the issue of protein C and protein S deficiency, the patient you are describing may have had one or more thrombotic (blood clotting) episodes that are independent of the protein C and protein S diagnosis. (fritsmafactor.com)
- Since no clinical symptoms/laboratory findings indicated a malignant or specific autoimmune-mediated disorder, the diagnosis made was thrombotic thrombocytopenic purpura-hemolytic uremic syndrome due to idiopathic combined, autoantibody-mediated ADAMTS-13/factor H deficiency. (biomedcentral.com)
- In nine cases, factor VIII concentrates have been the only blood product reportedly used in the 5 years before diagnosis of AIDS. (cdc.gov)
Hereditary4
- Molecular characterization of hereditary factor VII deficiency in the beagle. (pawprintgenetics.com)
- Hereditary factor VII deficiency in the Alaskan Klee Kai dog. (pawprintgenetics.com)
- Withnall E, Giger U. Effects of recombinant human activated factor VII and canine fresh frozen plasma in Beagles with hereditary coagulation factor VII deficiency. (pawprintgenetics.com)
- Congenital and hereditary forms of fibrinogen deficiency are described as early as 1920. (treatment-diabetes-info.com)
Disorders9
- Acquired factor X deficiency can be caused by other disorders such as severe liver disease or systemic amyloidosis, a condition involving the accumulation of abnormal proteins called amyloids. (medlineplus.gov)
- Abnormal formation of the prothrombinase complex: factor V deficiency and related disorders. (medscape.com)
- Complement component deficiencies refer to disorders of the 'complement system,' which helps the body fight off infections. (cdc.gov)
- Examples of complement component deficiencies include C3, C5-9, properdin, factor H, and factor D. These disorders are very rare and usually genetic. (cdc.gov)
- The symptoms of biotin deficiency can be confused for many other disorders or issues. (healthline.com)
- There are some other genetic disorders that may also result in biotin deficiency, including holocarboxylase synthetase deficiency, biotin transport deficiency, and phenylketonuria . (healthline.com)
- Menstrual bleeding, pregnancy and delivery present an intrinsic haemostatic challenge to women with bleeding disorders such as factor XI (FXI) deficiency. (rug.nl)
- Factor VII deficiency is very rare, but like all autosomal recessive disorders, it is found more frequently in areas of the world where marriage between close relatives is common. (haemophilia.ie)
- Inadequate dietary intake is associated with cognitive impairment , infertility , growth retardation and iodine deficiency disorders in affected populations . (bvsalud.org)
Symptoms of folate-deficiency1
- However, the symptoms of folate-deficiency anemia may be similar to other blood conditions or health problems. (naturalnews.com)
Women with factor XIII defic1
- Gynecological and obstetric outcome in the French cohort of women with factor XIII deficiency. (medscape.com)
XIII Deficiency Factor XIII1
- Factor XIII Deficiency Factor XIII (FXIII) is a tetrameric zymogen (FXIII-A (2)B (2)) that is converted into an active transglutaminase (FXIIIa) by thrombin and Ca (2+) in the terminal phase of the clotting cascade. (firebaseapp.com)
Folic1
- People who already have folate-deficiency anemia may need to increase their dietary intake of folic acid , whether it's through their actual diet or supplementation. (naturalnews.com)
Folate-deficiency anemia5
- What is folate deficiency anemia? (naturalnews.com)
- Folate deficiency anemia occurs when a person has a low level of folate, or vitamin B-9, in their body. (medicalnewstoday.com)
- In this article, we explore the causes, symptoms, and complications relating to folate deficiency anemia. (medicalnewstoday.com)
- Folate deficiency anemia is one of many different types of anemia. (medicalnewstoday.com)
- Getting enough folate through the diet and supplements is the best way to prevent folate deficiency anemia. (medicalnewstoday.com)
Mutations9
- The inherited form of factor X deficiency, known as congenital factor X deficiency, is caused by mutations in the F10 gene, which provides instructions for making a protein called coagulation factor X. This protein plays a critical role in the coagulation system, which is a series of chemical reactions that forms blood clots in response to injury. (medlineplus.gov)
- Some F10 gene mutations that cause factor X deficiency reduce the amount of coagulation factor X in the bloodstream, resulting in a form of the disorder called type I. Other F10 gene mutations result in the production of a coagulation factor X protein with impaired function, leading to type II factor X deficiency. (medlineplus.gov)
- Factor X deficiency: clinical manifestation of 102 subjects from Europe and Latin America with mutations in the factor 10 gene. (medlineplus.gov)
- FXI deficiency can result from mutations that impair either the synthesis of the FXI molecule or the secretion of the FXI molecule from the producing cell. (medscape.com)
- Mutations in the F10 -coding gene can cause factor X (FX) deficiency, leading to abnormal coagulation activity and severe tendency for hemorrhage. (karger.com)
- Therefore, identifying mutations in F10 is important for diagnosing congenital FX deficiency. (karger.com)
- Genetic analysis of these two mutations may help characterize the bleeding tendency and confirm congenital FX deficiency. (karger.com)
- Two predominant mutations, type II and III (using an older classification system) cause the FXI deficiency in patients of Ashkenazi Jewish descent. (medscape.com)
- Splicing mutations in clotting factors, a relatively frequent cause of severe bleeding, represent ideal models to test this strategy, because tiny increases in functional full-length protein levels in patients significantly ameliorate hemorrhagic phenotypes. (unife.it)
Congenital Factor XIII defic3
- Inbal A, Oldenburg J, Carcao M, Rosholm A, Tehranchi R, Nugent D. Recombinant factor XIII: a safe and novel treatment for congenital factor XIII deficiency. (medscape.com)
- New developments in the management of congenital Factor XIII deficiency. (medscape.com)
- Congenital factor XIII deficiency is very rare, affecting only 1 in 2 million people - about 100-125 people in the US. (firebaseapp.com)
Diseases6
- According to the researchers, vitamin D is of particular interest in asthma because of its immunomodulatory effects, and a deficiency of 25-hydroxyvitamin D in serum is considered a risk factor for the development of serious chronic diseases in which the processes inflammation play a role. (rivercitycards.com)
- Consequently, different nutritional deficiency-related diseases are affecting millions of infants and young children. (who.int)
- It is the largest systematic scientific effort in history to quantify levels and trends of health loss due to diseases, injuries, and risk factors. (who.int)
- Div of Host Factors, Center for Infectious Diseases, CDC. (cdc.gov)
- Low folate status also increases plasma homocysteine levels, a potential risk factor for chronic diseases, such as cardiovascular disease or cognitive function. (cdc.gov)
- eds) Comparative quantification of health risks: global and regional burden of diseases attributable to selected major risk factors . (who.int)
Genetic1
- Genetic testing of the F7 gene in dogs will reliably determine whether a dog is a genetic Carrier of coagulation factor VII deficiency. (pawprintgenetics.com)
Identified the abnormality2
- [ 3 ] They identified the abnormality as a deficiency in a clotting factor, which they termed plasma thromboplastin antecedent (PTA). (medscape.com)
- He identified the abnormality as a factor deficiency, which he termed PTA, that was distinct from the already identified antihemophilic globulin. (medscape.com)
Protein13
- A proposed classification system for factor XI deficiency is based on the patterns of protein production or dimerization of the FXI molecule. (medscape.com)
- In this situation, there is also an accompanying deficiency of factor II, factor VII, factor X, protein C, and protein S. All of these factors are vitamin K dependent for synthesis of the functional protein. (cancertherapyadvisor.com)
- Factor VII is an essential protein needed for normal blood clotting. (pawprintgenetics.com)
- Type I deficiency is a quantitative defect resulting from decreased synthesis of the protein, whereas type II deficiency is characterized by a normal or near‐normal concentration of functionally defective FXIII‐A. Untreated, severe congenital FXIII‐A deficiency causes severe bleeding events in the majority of cases, with intracranial hemorrhage being the major cause of death. (firebaseapp.com)
- 1987) studied a family in which 3 female sibs had undetectable levels of factor H and C3 nephritic factor, low levels of factor B, C3, and C5 (see 120500), and normal levels of C4-binding protein (120830), factor I (217030), and classic pathway factors. (findzebra.com)
- Factor XIII (13) deficiency is an inherited bleeding disorder caused when person's body doesn't produce enough of a protein in the blood (factor XIII or FXIII) which helps blood clot or the factor XIII doesn't work properly. (hft.org.au)
- In each case of detecting a- or hypofibrinogenemia, the doctor should first of all think not about the genetically determined deficiency of this protein, but about the more frequently acquired forms of the indicated pathology in clinical practice, caused either by DIC or hepatic dystrophy. (treatment-diabetes-info.com)
- Factor I (1) or fibrinogen deficiency is an inherited bleeding disorder caused when a person's body does not produce any or enough of a protein in the blood (fibrinogen) that plays an important role in blood clotting or the fibrinogen doesn't work properly. (hfq.org.au)
- It discusses a common problem, so I have reproduced it here: Should Lovenox be used for someone with a protein C and protein S deficiency when there is a coumadin hold related to a procedure scheduled? (fritsmafactor.com)
- The prevalence of protein C deficiency is 1 in 300 and protein S deficiency prevalence is unknown but is less frequent than 1 in 1,000, so the possibility of someone inheriting both deficiencies together is less than 1 in 300,000, extremely rare. (fritsmafactor.com)
- We often make a fundamental error by testing for protein C and protein S deficiency when a patient is taking coumadin (warfarin), or when they have had a recent thrombotic event, both of which consistently cause both protein C and protein S to be temporarily decreased. (fritsmafactor.com)
- To confirm protein C and protein S deficiency, the patient must be off coumadin for at least 14 days (a medical decision based on patient safety) and must not have an active clotting episode in progress. (fritsmafactor.com)
- A report of either protein C or protein S deficiency in the absence of clotting may not necessarily require therapy. (fritsmafactor.com)
Nutritional6
- [2] Vegans can experience B12 dietary deficiencies, but vegans can look for plant based sources of B12, including nutritional yeast, fortified foods, and B12 supplements. (naturalfactors.com)
- It identifies gene-nutrient interactions associated with the nutritional deficiencies that people with IBD commonly experience, and the role of the Western diet in influencing these. (mdpi.com)
- 3. In Africa, nutritional problems in infants and young children occur in a context characterized by factors such as the prevalent low birth weight, household food insecurity, inappropriate infant and young child feeding practices, including the absence of food safety and hygiene, and inadequate intake of proteins and energy foods. (who.int)
- 4. Over the past decade, the international community has intensified actions to fight against all these nutritional deficiencies. (who.int)
- Nutritional deficiencies pain and neck pain. (who.int)
- Anaemia remains a widespread public ders or nutritional deficiencies of folate and health problem with major consequences vitamin B as well as HIV/AIDS [ 4 ]. (who.int)
Workup1
- FXI deficiency can manifest as an incidental laboratory abnormality-for example, when a preoperative workup for elective surgery reveals an unexpected prolongation of the activated partial thromboplastin time (aPTT). (medscape.com)
Disorder18
- Factor X deficiency is a rare bleeding disorder that varies in severity among affected individuals. (medlineplus.gov)
- A non-inherited form of the disorder, called acquired factor X deficiency, is more common than the congenital form. (medlineplus.gov)
- Acquired factor X deficiency is not inherited, and generally occurs in individuals with no history of the disorder in their family. (medlineplus.gov)
- Factor XI (FXI) deficiency is a rare autosomal disorder that may be associated with bleeding. (medscape.com)
- Factor I deficiency, also known as fibrinogen deficiency, is a rare inherited bleeding disorder related to fibrinogen function in the blood coagulation cascade. (wikipedia.org)
- An autosomal recessive characteristic or a coagulation disorder acquired in association with VITAMIN K DEFICIENCY. (umassmed.edu)
- FXI deficiency can manifest first as a bleeding disorder or as an incidental laboratory abnormality. (medscape.com)
- Coagulation factor VII deficiency is an inherited bleeding disorder affecting dogs. (pawprintgenetics.com)
- Deficiency of this factor most commonly results in a mild bleeding disorder. (pawprintgenetics.com)
- 2011-08-16 · Factor XIII deficiency is an extremely rare inherited blood disorder characterized by abnormal blood clotting that may result in abnormal bleeding. (firebaseapp.com)
- Factor XIII deficiency is a congenital disorder that is inherited as an autosomal recessive trait and is associated with a variable bleeding tendency Acquired factor XIII deficiency is associated with liver failure, inflammatory bowel disease, leukemia, disseminated intravascular coagulation, Henoch-Schonlein purpura, systemic lupus erythematosus and exposure to certain drugs (phenytoin People with congenital (or inherited) factor XIII deficiency are born with low levels of factor XIII in the blood. (firebaseapp.com)
- Factor XIII deficiency is a rare bleeding disorder. (firebaseapp.com)
- See also complement factor I deficiency (610984), which shows phenotypic overlap with this disorder. (findzebra.com)
- Factor VII deficiency is an inherited bleeding disorder that is caused by a problem with factor VII. (haemophilia.ie)
- Factor VII deficiency is an autosomal recessive disorder, which means that both parents must carry the defective gene in order to pass it on to their child. (haemophilia.ie)
- A rare inherited bleeding disorder with a decreased antigen and/or activity of factor X (FX) and characterized by mild to severe bleeding symptoms. (nih.gov)
- Factor XI (FXI) deficiency is an autosomal bleeding disorder, usually posttrauma or postsurgery, characterized by reduced levels of coagulation FXI in plasma. (hunimed.eu)
- The top five leading causes of YLDs in Angola are major depressive disorder, low back pain, iron-deficiency anemia, malaria, and chronic obstructive pulmonary disease. (who.int)
Case of congenital2
- Harel R, Shani D, Donohoe K. A case of congenital prothrombin deficiency and idiopathic thrombocytopenic purpura in a pregnant female. (medscape.com)
- A case of congenital factor V deficiency. (medscape.com)
Abnormal1
- Reduced quantity or function of coagulation factor X prevents blood from clotting normally, causing episodes of abnormal bleeding that can be severe. (medlineplus.gov)
Iron defici6
- The prevalence of iron deficiency anemia (IDA) is particularly high in poorer countries. (medgadget.com)
- Iron deficiency anemia therapies can play a critical role in providing the necessary nutrients to prevent the development of anemia in girls and other vulnerable sections. (medgadget.com)
- Iron deficiency anemia is also considered to be a comorbidity, which weakens the immune system. (medgadget.com)
- Thus, iron deficiency anemia therapies are likely to experience heightened demand during the coronavirus pandemic as physicians will need to provide quick and effective treatment to anemic patients showing signs of the COVID-19 infection. (medgadget.com)
- Geographically, North America is expected to lead the iron deficiency anemia therapy market share in the forthcoming years on account of the steadily expanding testing of women for anemia in Canada and the US. (medgadget.com)
- Recognizing the urgency of releasing therapies to tackle the growing prevalence of iron deficiency anemia, regulatory bodies are providing the necessary support to approve novel IDA therapies developed by some of the key players in the market. (medgadget.com)
Recombinant2
- 143-146 Supplementation with human or recombinant factor XIII has been demonstrated to reduce bleeding after adult heart surgery, although possibly only in the presence of factor deficiency. (firebaseapp.com)
- Life-threatening hemorrhagic symptoms in severe FVII deficiency are prevented by frequent administration of fresh frozen plasma or recombinant FVIIa. (unife.it)
Pregnancy6
- Women with factor X deficiency can have heavy or prolonged menstrual bleeding (menorrhagia) or excessive bleeding in childbirth, and may be at increased risk of pregnancy loss (miscarriage). (medlineplus.gov)
- Pregnant women, in particular, should avoid drinking alcohol before and during pregnancy to reduce the risk of folate deficiency. (naturalnews.com)
- Therefore, we aimed to estimate the prevalence of serum vitamin D and calcium deficiencies and insufficiencies and associated risk factors in Brazilian women of childbearing age and to assess whether there are differences in prevalence according to regions of the country and the presence or absence of pregnancy. (ucl.ac.uk)
- Girolami A, Scandellari R, Lombardi AM, Girolami B, Bortoletto E, Zanon E. Pregnancy and oral contraceptives in factor V deficiency: a study of 22 patients (five homozygotes and 17 heterozygotes) and review of the literature. (medscape.com)
- Conditions frequently associated with chronic iron deficiency (e.g., malabsorption, megaloblastic anemia, pregnancy, infants on prolonged milk feeding) should also prompt further investigation. (med-life.net)
- Cadmium absorption increases during certain physiological states such as iron deficiency and pregnancy. (cdc.gov)
Defect1
- Girolami A, Scarparo P, Scandellari R, Allemand E. Congenital factor X deficiencies with a defect only or predominantly in the extrinsic or in the intrinsic system: a critical evaluation. (medlineplus.gov)
Iodine deficiency7
- The Prevalence and Risk Factors Associated with Iodine Deficiency in Canadian Adults. (bvsalud.org)
- Herein, we examined the prevalence of iodine deficiency in adults (median age of 61 years) based on the analysis of 24 h urine samples collected from 800 participants in four clinical sites across Canada in the Prospective Urban and Rural Epidemiological (PURE) study. (bvsalud.org)
- Protective/ risk factors associated with iodine deficiency were identified using a binary logistic regression model, whereas daily urinary iodine concentration (24 h UIC, µg/L) and urinary iodine excretion (24 h UIE, µg/day) were compared using complementary statistical methods with covariate adjustments . (bvsalud.org)
- 50 µg/L categorized as having moderate to severe iodine deficiency . (bvsalud.org)
- p = 1.20 × 10-2) had lower risk for iodine deficiency . (bvsalud.org)
- p = 3.57 × 10-4) were more susceptible to iodine deficiency than Hamilton or Ottawa. (bvsalud.org)
- Recent public health policies that advocate for salt restriction and lower dairy intake may inadvertently reduce iodine nutrition of Canadians, and further exacerbate regional variations in iodine deficiency risk . (bvsalud.org)
Fibrinogen2
- Fibrinogen alpha and gamma genes and factor VLeiden in children with thromboembolism: results from 2 family-based association studies. (medscape.com)
- What Is Factor I (Fibrinogen) Deficiency? (hfq.org.au)
Prevalence of anaemia3
- Although the prevalence of anaemia has often been used as a proxy indicator for iron deficiency anaemia, this approach is not valid in settings where the etiology of anaemia is complex or unknown or where other micronutrient deficiencies of folate, vitamin B and vitamin A can co-exist. (who.int)
- countries of the Region was studied in Among infants from 6 months on- 1995 [ 7 ] although the terms anaemia and wards, a high prevalence of anaemia is re- iron deficiency anaemia were used inter- ported, with iron deficiency anaemia being changeably. (who.int)
- Preschool children were more af- the prevalence of anaemia has ranged be- fected than women, with reported preva- tween 20% and 70%, again mostly attribut- lence in excess of 60% in many countries ed to iron deficiency [ 15-18 ], in addition to [ 7 ]. (who.int)
Rosenthal1
- Rosenthal and colleagues first described factor XI deficiency in 1953. (medscape.com)
Assay3
- Plasma samples were screened for alpha1AT deficiency (PiZ) with an enzyme-linked immunosorbent assay (ELISA) and phenotyped by. (lu.se)
- A recently published study evaluated the thermostability of murine retroviruses inocculated into factor concentrates, using a cell transformation assay (5). (cdc.gov)
- In studies done at CDC, in cooperation with Cutter Laboratories, AIDS virus was added to factor VIII concentrate (virus titer 10((5))) and the factor was lyophilized and heated to 68 C (154.4 F). The residual virus titer was determined by an infectivity assay (6). (cdc.gov)
Immune Deficiency1
- This report Human Immuno Deficiency Virus / Acquired Immune Deficiency. (firebaseapp.com)
Megaloblastic anemia1
- Prolonged folate deficiency leads to megaloblastic anemia. (cdc.gov)
Thrombin4
- FXI is a zymogen, and when activated by factor XIIa or thrombin or when it is autoactivated, FXI becomes a trypsinlike serine protease. (medscape.com)
- Activation of factor XIII (FXIII) by thrombin and calcium is a 2-step process. (medscape.com)
- Protamine sulfate down-regulates thrombin generation by inhibiting factor V activation. (medscape.com)
- Factor Xa in turn activates prothrombin (factor II) to thrombin (factor IIa). (nih.gov)
Vitamin B123
- Vitamin B12 deficiency: a factor that induces depression? (bvsalud.org)
- The deficiency of vitamin B12 creates a case of hyperhomocysteinemia and decline of S-adenosylmethionine, which is a risk factor for depression without adequate treatment. (bvsalud.org)
- This project had as an objective to verify the relation between depression and the deficiency of vitamin B12, through literary revision. (bvsalud.org)
Function of coagulation1
- The anticoagulant function of coagulation factor V. Thromb Haemost . (medscape.com)
Occur4
- Folate deficiency may occur if a person does not consume enough foods that contain folate. (medicalnewstoday.com)
- Acquired factor IX deficiency can occur in a number of situations. (cancertherapyadvisor.com)
- Still, a biotin deficiency can occur. (healthline.com)
- Signs and symptoms occur as the result of a deficiency in the blood clotting factor 13, which is responsible for stabilizing the formation of a blood clot. (firebaseapp.com)
Genetics2
- Delayed umbilical bleeding--a presenting feature for factor XIII deficiency: clinical features, genetics, and management. (medscape.com)
- Factor V Leiden and Ischemic Stroke Risk: The Genetics of Early Onset Stroke (GEOS) Study. (medscape.com)
Supplements2
- You can also treat your zinc deficiency right away with supplements. (healthline.com)
- These data will be used to estimate deficiencies and other health effects of specific nutrients in the population and subgroup, to provide population reference data, and to estimate the contribution of diet, supplements, and other factors to the levels of nutrients. (cdc.gov)
Enough foods that contain folate1
- Folate deficiency is often caused by not consuming enough foods that contain folate. (naturalnews.com)
Treatment6
- Treatment of FXI deficiency is determined by the intervention planned. (medscape.com)
- Van den Berg SA, Verwer PE, Idema RN, Van Guldener C. Transient cefuroxime/metronidazole treatment induced factor V antibodies. (medscape.com)
- Long-term treatment for zinc deficiency starts with changing your diet. (healthline.com)
- Treatment for a biotin deficiency typically fits into two main categories. (healthline.com)
- During a clinical trial to determine the impact of H. pylori treatment on iron deficiency, we evaluated the effects of H. pylori infection and treatment on growth. (cdc.gov)
- Children with H. pylori infection and iron deficiency entered the treatment phase and received iron alone or iron plus triple therapy for H. pylori. (cdc.gov)
Manifest1
- Complement factor H deficiency (CFHD) can manifest as several different phenotypes, including asymptomatic, recurrent bacterial infections, and renal failure. (findzebra.com)
FXIII2
- Acquired factor XIII (FXIII) deficiency can be caused by liver disease, inflammatory bowel disease , and disseminated intravascular coagulation , although controversy surrounds whether the low plasma levels in these conditions actually contribute to clinical bleeding. (medscape.com)
- Naderi M, Eshghi P, Cohan N, Miri-Moghaddam E, Yaghmaee M, Karimi M. Successful delivery in patients with FXIII deficiency receiving prophylaxis: report of 17 cases in Iran. (medscape.com)
Homozygous4
- Mice homozygous for a null allele exhibit decreased serum factor V and VIII and aspartate transaminase serum levels with accumulation of the proteins in the ER of hepatocytes. (jax.org)
- Delev D, Pavlova A, Heinz S, Seifried E, Oldenburg J. Factor 5 mutation profile in German patients with homozygous and heterozygous factor V deficiency. (medscape.com)
- This results in no measurable FXI in the homozygous state and a measurable factor XI level that is lower than the expected 50% in the heterozygous state. (medscape.com)
- We explored the snRNA-mediated rescue of coagulation factor VII (FVII) expression impaired by the IVS7+5 g/a mutation, which is associated to life-threatening bleeding in homozygous patients. (unife.it)
Mild1
- While extreme vitamin C deficiency is known to cause scurvy, it is less well known that mild to moderate deficiency can contribute to fatigue. (naturalfactors.com)
Insufficiency3
- Vitamin D deficiency and insufficiency as well as low serum calcium levels can trigger negative health outcomes in women of childbearing age. (ucl.ac.uk)
- We found a high prevalence of vitamin D deficiency and insufficiency in women of childbearing age, with insufficiency affecting more than half of these women. (ucl.ac.uk)
- The highest prevalence of vitamin D deficiency and insufficiency was observed in the South region. (ucl.ac.uk)
Thromboplastin1
- A prolonged partial thromboplastin time (PTT) in the presence of a low factor IX level confirms the presence of factor IX deficiency. (cancertherapyadvisor.com)
Liver1
- Factor IX can be decreased with many of the other coagulation factors in patients with severe liver disease. (cancertherapyadvisor.com)
Infection5
- Once introduced, an infection might then be disseminated through other factors, although rapid course and high mortality combined with low transmissibility are often limiting. (cdc.gov)
- However, even if a zoonotic agent is not able to spread readily from person to person and establish itself, other factors (e.g., nosocomial infection) might transmit the infection. (cdc.gov)
- Asymptomatic Helicobacter pylori infection and iron deficiency are not associated with decreased growth among Alaska Native children aged 7-11 years. (cdc.gov)
- Alaska Native children have high Helicobacter pylori infection and iron deficiency prevalences, and their average height-for-age is lower than US reference populations. (cdc.gov)
- H. pylori infection was determined by urea breath test and iron deficiency using serum ferritin. (cdc.gov)
Infants2
- The people at the highest risk of zinc deficiency in the United States are infants who are breastfeeding and older adults. (healthline.com)
- Each year, micro-nutrient deficiencies take a heavy toll on infants and young children. (who.int)
Autosomal Recessive1
- Coagulation factor VII deficiency is inherited in an Autosomal Recessive manner in dogs meaning that they must receive two copies of the mutated gene (one from each parent) to develop the disease. (pawprintgenetics.com)
Risk10
- Here evidence implicating omega-3 (n-3) fatty acid deficiency in the pathoaetiology of CHD and MDD is reviewed, and the hypothesis that n-3 fatty acid deficiency is a preventable risk factor for CHD comorbidity in MDD patients is evaluated. (hindawi.com)
- A rapidly emerging body of evidence suggests that membrane omega-3 (n-3) fatty acid deficiency is a preventable risk factor for both CHD [ 18 ] and MDD [ 19 ]. (hindawi.com)
- To evaluate the hypothesis that n-3 fatty acid deficiency is a risk factor for CHD morbidity and mortality in MDD, it is important to consider that the age at onset for unipolar and bipolar depression peaks in young adulthood (15-19 years) [ 24 , 25 ], whereas CHD mortality peaks substantially later (75-84 years) [ 26 ]. (hindawi.com)
- We therefore assessed the PiZ deficiency variant of the major plasma protease inhibitor alpha1-antitrypsin (alpha1AT) as a risk factor for PUD in H. pylori-infected individuals. (lu.se)
- People with alcoholism are also at risk of deficiency. (healthline.com)
- Low factor IX levels in patients with a lupus anticoagulant are not associated with an increased risk for bleeding. (cancertherapyadvisor.com)
- Conclusion: Women with FXI deficiency have a clearly increased risk of HMB, and of bleeding complications after miscarriage, TOP and delivery. (rug.nl)
- I've listed some of the specific risk factors for vitamin D below. (lanisimpson.com)
- q The leading risk factor in Angola is childhood underweight. (who.int)
- Cadmium Toxicity: What Factors Increase the Risk of Developing Disease from Exposure to Cadmium? (cdc.gov)
Complement component2
- Laboratory features usually include decreased serum levels of factor H , complement component C3 (120700), and a decrease in other alternative pathway components, indicating activation of the alternative complement pathway. (findzebra.com)
- In 1 family, of Polish origin, a teenaged male had vasculitis, thrombocytopenia, proteinuria, and depressed levels of serum factor H and complement component C3. (findzebra.com)