Fibrinogen
Hemorrhagic Disorders
Subgingival Curettage
Codon, Nonsense
RNA Splice Sites
Pedigree
Recurrent spontaneous intracerebral hemorrhage in a congenitally afibrinogenemic patient: diagnostic pitfalls and therapeutic options. (1/127)
BACKGROUND: Coagulation disorders can cause intracerebral bleeding that may be difficult to detect since subsequent aberrant clot formation may mask early detection. This is an important pitfall because, when diagnosed early, bleeding in these patients is treatable. CASE DESCRIPTION: A patient with congenital afibrinogenemia presented with recurrent hemiparesis. Spontaneous intracerebral hemorrhage was diagnosed, despite an initial negative CT scan. Diagnosis, therapy, and complications of therapy are discussed. CONCLUSIONS: Intracerebral hemorrhage must be strongly suspected in any patient with a coagulation disorder presenting with matching clinical symptoms. Therapy must be installed immediately, before additional investigations, and should be continued even when initial neuroimaging is negative. (+info)Hypofibrinogenemia associated with a heterozygous missense mutation gamma153Cys to arg (Matsumoto IV): in vitro expression demonstrates defective secretion of the variant fibrinogen. (2/127)
We genetically analyzed a case of hypofibrinogenemia that showed no bleeding or thrombotic tendency. Direct sequencing of a polymerase chain reaction-amplified gamma-chain gene segment showed a novel nucleotide substitution. This heterozygous mutation encodes both Cys (TGT) and Arg (CGT) at residue 153. To examine the basis for the fibrinogen deficiency, we prepared expression vectors containing mutant gamma-chain DNAs encoding gamma153R and gamma153A for in vitro expression in Chinese hamster ovary (CHO) cells. Enzyme-linked immunosorbent assay and immunoblot analysis of the culture media and cell lysates showed that CHO cells transfected with gamma153R or gamma153A synthesized the variant gamma-chain, but did not secrete variant fibrinogen into the culture medium. Metabolic pulse-chase experiments showed that fibrinogen assembly was impaired when either variant gamma-chain was expressed. In cells expressing normal fibrinogen, assem- bly intermediates and intact fibrinogen were seen in cell lysates prepared after short (3 minutes) or long (1 hour) incubation with (35)S-methionine. Neither intermediates nor intact fibrinogen was seen with the variant gamma-chains. These data suggest that gamma-chains have an important early role in fibrinogen assembly. Thus, our results support the model for fibrinogen assembly proposed by Huang et al (J Biol Chem 268:8919, 1993), in which the first step in assembly is the formation of alphagamma or betagamma dimers, or both. This model implies that gammaCys153 has a critical role in the formation of these early assembly intermediates. We concluded that the gamma153Cys-->Arg substitution does not allow fibrinogen assembly and secretion, and this is manifest in vivo as a fibrinogen deficiency. We designated this variant as fibrinogen Matsumoto IV. (+info)The 11 kb FGA deletion responsible for congenital afibrinogenaemia is mediated by a short direct repeat in the fibrinogen gene cluster. (3/127)
Congenital afibrinogenaemia is an autosomal recessive disorder characterised by the complete absence of detectable fibrinogen. We previously identified the first known causative mutations for this disorder in a non-consanguineous Swiss family. The four affected male individuals (two brothers and their first two cousins) were shown to have homozygous deletions of approximately 11 kb of the fibrinogen alpha chain (FGA) gene. Haplotype data suggested that the deletions occurred on three distinct ancestral chromosomes, implying that the FGA region of the fibrinogen locus is susceptible to deletion by a common mechanism, but the sequences responsible for the recombination remained to be identified. Here, we report the detailed characterisation of the deletion by nucleotide sequence analysis of all three deletion junctions and comparison with normal sequences. We found that all three deletions were identical to the base-pair and probably resulted from non-homologous (illegitimate) recombination. The centromeric and telomeric deletion junctions featured both a 7 bp direct repeat, AACTTTT, situated in FGA intron 1 and in the FGA-FGB intergenic sequence and a number of inverted repeats which could be involved in the generation of secondary structures. Analysis with closely linked flanking polymorphic markers revealed the existence of at least two haplotypes, further suggesting independent origins of the deletions in this family. (+info)Plasminogen deficiency leads to impaired remodeling after a toxic injury to the liver. (4/127)
Cellular proliferation and tissue remodeling are central to the regenerative response after a toxic injury to the liver. To explore the role of plasminogen in hepatic tissue remodeling and regeneration, we used carbon tetrachloride to induce an acute liver injury in plasminogen-deficient (Plg(o)) mice and nontransgenic littermates (Plg(+)). On day 2 after CCl(4), livers of Plg(+) and Plg(o) mice had a similar diseased pale/lacy appearance, followed by restoration of normal appearance in Plg(+) livers by day 7. In contrast, Plg(o) livers remained diseased for as long as 2.5 months, with a diffuse pale/lacy appearance and persistent damage to centrilobular hepatocytes. The persistent centrilobular lesions were not a consequence of impaired proliferative response in Plg(o) mice. Notably, fibrin deposition was a prominent feature in diseased centrilobular areas in Plg(o) livers for at least 30 days after injury. Nonetheless, the genetically superimposed loss of the Aalpha fibrinogen chain (Plg(o)/Fib(o) mice) did not correct the abnormal phenotype. These data show that plasminogen deficiency impedes the clearance of necrotic tissue from a diseased hepatic microenvironment and the subsequent reconstitution of normal liver architecture in a fashion that is unrelated to circulating fibrinogen. (+info)Missense mutations in the human beta fibrinogen gene cause congenital afibrinogenemia by impairing fibrinogen secretion. (5/127)
Congenital afibrinogenemia is a rare autosomal recessive disorder characterized by bleeding that varies from mild to severe and by complete absence or extremely low levels of plasma and platelet fibrinogen. Although several mutations in the fibrinogen genes associated with dysfibrinogenemia and hypofibrinogenemia have been described, the genetic defects of congenital afibrinogenemia are largely unknown, except for a recently reported 11-kb deletion of the fibrinogen Aalpha-chain gene. Nevertheless, mutation mechanisms other than the deletion of a fibrinogen gene are likely to exist because patients with afibrinogenemia showing no gross alteration within the fibrinogen cluster have been reported. We tested this hypothesis by studying the affected members of two families, one Italian and one Iranian, who had no evidence of large deletions in the fibrinogen genes. Sequencing of the fibrinogen genes in the 2 probands detected 2 different homozygous missense mutations in exons 7 and 8 of the Bbeta-chain gene, leading to amino acid substitutions Leu353Arg and Gly400Asp, respectively. Transient transfection experiments with plasmids expressing wild-type and mutant fibrinogens demonstrated that the presence of either mutation was sufficient to abolish fibrinogen secretion. These findings demonstrated that missense mutations in the Bbeta fibrinogen gene could cause congenital afibrinogenemia by impairing fibrinogen secretion. (Blood. 2000;95:1336-1341) (+info)Hypofibrinogenemia in an individual with 2 coding (gamma82 A-->G and Bbeta235 P-->L) and 2 noncoding mutations. (6/127)
We investigated the molecular basis of hypofibrinogenemia in a man with a normal thrombin clotting time. Protein analysis indicated equal plasma expression of 2 different Bbeta alleles, and DNA sequencing confirmed heterozygosity for a new Bbeta235 P-->L mutation. Protein analysis also revealed a novel gamma(D) chain, present at a ratio of 1:2 relative to the gamma(A) chain. Mass spectrometry indicated a 14 d decrease in the gamma(D)-chain mass, and DNA sequencing showed this was caused by a novel gamma82 A-->G substitution. DNA sequencing established heterozygosity for 2 further mutations: T-->C in intron 4 of the Aalpha gene and A-->C in the 3' noncoding region of the Bbeta gene. Studies on the man's daughter, together with plasma expression levels, discounted both the Aalpha and Bbeta mutations as the cause of the low fibrinogen, suggesting that the gamma82 mutation caused the hypofibrinogenemia. This was supported by analysis of 31 normal controls in whom the Bbeta mutations were found at polymorphic levels, with an allelic frequency of 5% for the Bbeta235 mutation and 42% for the Bbeta 3' untranslated mutation. The gamma82 mutation was, however, unique to the propositus. Residue gamma82 is located in the triple helix that separates the E and D domains, and aberrant packing of the helices may explain the decreased fibrinogen concentration. (Blood. 2000;95:1709-1713) (+info)Fibrinogen brescia: hepatic endoplasmic reticulum storage and hypofibrinogenemia because of a gamma284 Gly-->Arg mutation. (7/127)
The proposita suffered from liver cirrhosis and biopsy showed type 1 membrane-bound fiberglass inclusions. The hepatic inclusion bodies were weakly periodic acid-Schiff diastase-positive, and on immunoperoxidase staining reacted specifically with anti-fibrinogen antisera. Coagulation investigations revealed low functional and antigenic fibrinogen together with a prolonged thrombin time of 37 seconds (normal, 17 to 22 seconds) suggestive of a hypodysfibrinogenemia. DNA sequencing of all three fibrinogen genes showed a single heterozygous mutation of GGG (Gly)-->CGG (Arg) at codon 284 of the gamma-chain gene. However, examination of purified fibrinogen chains by sodium dodecyl sulfate-polyacrylamide gel electrophoresis, reverse-phase high-performance liquid chromatography, ion-exchange high-performance liquid chromatography, and isoelectric focusing, failed to show any evidence of the mutant gamma(Br) chain in plasma fibrinogen. This finding was substantiated by electrospray ionization mass spectrometry, which showed only a normal gamma (and Bbeta) chain mass, but a large increase in the portion of their disialo isoforms. We speculate that misfolding of the variant protein causes hepatic retention and the subsequent hypofibrinogenemia, and that the functional defect (dysfibrinogenemia) results from hypersialylation of otherwise normal Bbeta and gamma chains consequent to the liver cirrhosis. These conclusions were supported by studies on six other family members with hypofibrinogenemia, and essentially normal clotting times, who were heterozygous for the gamma284 Gly-->Arg mutation. (+info)Homozygous truncation of the fibrinogen A alpha chain within the coiled coil causes congenital afibrinogenemia. (8/127)
The molecular basis of a novel congenital afibrinogenemia has been determined. The proposita, the only affected member in a consanguineous Norwegian family, suffers from a moderate to severe bleeding disorder due to the total absence of any detectable fibrinogen. Dot blots of solubilized platelets revealed a small amount of gamma chain but no A alpha or B beta chains, whereas no chains were detected in plasma dot blots. DNA sequencing of the A alpha chain gene revealed a homozygous C-->T transversion 557 nucleotides from the transcription initiation site. This nucleotide change predicts the nonsense mutation A alpha 149 Arg (CGA)-->stop (TGA). Early truncation of the A alpha chain appears to result in defective assembly or secretion of fibrinogen, probably due to the removal of the C-terminal disulfide ring residues that are critically required for the formation of a stable 3-chained half molecule. (Blood. 2000;96:773-775) (+info)Afibrinogenemia is a rare genetic disorder characterized by the complete absence or severely decreased levels of fibrinogen, a protein involved in blood clotting. This condition leads to an increased risk of excessive bleeding due to the inability to form proper blood clots. It is caused by mutations in the genes that provide instructions for making the three chains (Aα, Bβ, and γ) that make up the fibrinogen protein. Inheritance is autosomal recessive, meaning an individual must inherit two copies of the defective gene, one from each parent, to have the condition.
Fibrinogen is a soluble protein present in plasma, synthesized by the liver. It plays an essential role in blood coagulation. When an injury occurs, fibrinogen gets converted into insoluble fibrin by the action of thrombin, forming a fibrin clot that helps to stop bleeding from the injured site. Therefore, fibrinogen is crucial for hemostasis, which is the process of stopping bleeding and starting the healing process after an injury.
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.
Subgingival curettage is a dental procedure that involves the removal of infected tissue from the area below the gum line (subgingival) down to the bottom of the periodontal pocket. This procedure is typically performed by a dentist or dental hygienist during a deep cleaning or scaling and root planing procedure to treat periodontal disease. The goal of subgingival curettage is to remove damaged, infected, or necrotic tissue from the periodontal pocket, which can help promote healing and reduce the depth of the pocket. This procedure may also be used as a diagnostic tool to assess the extent of periodontal damage and guide treatment planning.
Pericoronitis is a dental condition characterized by inflammation of the tissue around the crown of a tooth, usually affecting the lower wisdom teeth that have only partially erupted through the gum line. The term "peri" means around, and "coron" refers to the crown of the tooth.
In pericoronitis, the gum tissues surrounding the affected tooth become red, swollen, and painful due to bacterial infection and accumulation of debris under the gum flap (operculum) covering the partially erupted tooth. This condition can lead to complications such as difficulty in chewing, swallowing, and speaking, as well as trismus (restricted jaw movement), pus discharge, and fever in severe cases.
Treatment for pericoronitis typically involves removing the source of irritation and infection, which may include professional dental cleaning, irrigation, and antibiotics to manage the infection. In some instances, surgical removal of the affected tooth or operculum may be necessary to alleviate symptoms and prevent future recurrences.
Consanguinity is a medical and genetic term that refers to the degree of genetic relationship between two individuals who share common ancestors. Consanguineous relationships exist when people are related by blood, through a common ancestor or siblings who have children together. The closer the relationship between the two individuals, the higher the degree of consanguinity.
The degree of consanguinity is typically expressed as a percentage or fraction, with higher values indicating a closer genetic relationship. For example, first-degree relatives, such as parents and children or full siblings, share approximately 50% of their genes and have a consanguinity coefficient of 0.25 (or 25%).
Consanguinity can increase the risk of certain genetic disorders and birth defects in offspring due to the increased likelihood of sharing harmful recessive genes. The risks depend on the degree of consanguinity, with closer relationships carrying higher risks. It is important for individuals who are planning to have children and have a history of consanguinity to consider genetic counseling and testing to assess their risk of passing on genetic disorders.
A nonsense codon is a sequence of three nucleotides in DNA or RNA that does not code for an amino acid. Instead, it signals the end of the protein-coding region of a gene and triggers the termination of translation, the process by which the genetic code is translated into a protein.
In DNA, the nonsense codons are UAA, UAG, and UGA, which are also known as "stop codons." When these codons are encountered during translation, they cause the release of the newly synthesized polypeptide chain from the ribosome, bringing the process of protein synthesis to a halt.
Nonsense mutations are changes in the DNA sequence that result in the appearance of a nonsense codon where an amino acid-coding codon used to be. These types of mutations can lead to premature termination of translation and the production of truncated, nonfunctional proteins, which can cause genetic diseases or contribute to cancer development.
RNA splice sites are specific sequences on the pre-messenger RNA (pre-mRNA) molecule where the splicing process occurs during gene expression in eukaryotic cells. The pre-mRNA contains introns and exons, which are non-coding and coding regions of the RNA, respectively.
The splicing process removes the introns and joins together the exons to form a mature mRNA molecule that can be translated into a protein. The splice sites are recognized by the spliceosome, a complex of proteins and small nuclear RNAs (snRNAs) that catalyze the splicing reaction.
There are two main types of splice sites: the 5' splice site and the 3' splice site. The 5' splice site is located at the junction between the 5' end of the intron and the 3' end of the exon, while the 3' splice site is located at the junction between the 3' end of the intron and the 5' end of the exon.
The 5' splice site contains a conserved GU sequence, while the 3' splice site contains a conserved AG sequence. These sequences are recognized by the snRNAs in the spliceosome, which bind to them and facilitate the splicing reaction.
Mutations or variations in RNA splice sites can lead to abnormal splicing and result in diseases such as cancer, neurodegenerative disorders, and genetic disorders.
I must clarify that the term "pedigree" is not typically used in medical definitions. Instead, it is often employed in genetics and breeding, where it refers to the recorded ancestry of an individual or a family, tracing the inheritance of specific traits or diseases. In human genetics, a pedigree can help illustrate the pattern of genetic inheritance in families over multiple generations. However, it is not a medical term with a specific clinical definition.
Exons are the coding regions of DNA that remain in the mature, processed mRNA after the removal of non-coding intronic sequences during RNA splicing. These exons contain the information necessary to encode proteins, as they specify the sequence of amino acids within a polypeptide chain. The arrangement and order of exons can vary between different genes and even between different versions of the same gene (alternative splicing), allowing for the generation of multiple protein isoforms from a single gene. This complexity in exon structure and usage significantly contributes to the diversity and functionality of the proteome.
Congenital afibrinogenemia
List of OMIM disorder codes
Fibrinogen beta chain
Factor I deficiency
Fibrinogen alpha chain
List of fibrinogen disorders
Fibrinogen
List of Akumetsu characters
Haemophilia C
Congenital hypofibrinogenemia
List of diseases (C)
List of MeSH codes (C16)
List of diseases (A)
Cryoprecipitate
List of MeSH codes (C15)
Oxytocin (medication)
Congenital afibrinogenemia - Wikipedia
Congenital afibrinogenemia: MedlinePlus Genetics
AFIBRINOGENEMIA | Anesthesiology | American Society of Anesthesiologists
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Congenital afibrinogenemia14
- Congenital afibrinogenemia is a rare, genetically inherited blood fibrinogen disorder in which the blood does not clot normally due to the lack of fibrinogen, a blood protein necessary for coagulation. (wikipedia.org)
- A suspicion of congenital afibrinogenemia may appear on a platelet aggregation function test. (wikipedia.org)
- A case from 2015 was seen in which congenital afibrinogenemia was resolved in a patient after receiving a liver transplant. (wikipedia.org)
- Congenital afibrinogenemia is a bleeding disorder caused by impairment of the blood clotting process. (medlineplus.gov)
- However, bleeding is uncontrolled in people with congenital afibrinogenemia. (medlineplus.gov)
- Women with congenital afibrinogenemia can have abnormally heavy menstrual bleeding (menorrhagia). (medlineplus.gov)
- Congenital afibrinogenemia is a rare condition that occurs in approximately 1 in 1 million newborns. (medlineplus.gov)
- Congenital afibrinogenemia results from mutations in one of three genes, FGA , FGB , or FGG . (medlineplus.gov)
- Congenital afibrinogenemia is caused by a complete absence of fibrinogen protein. (medlineplus.gov)
- Consequently, blood clots do not form in response to injury, leading to the excessive bleeding seen in people with congenital afibrinogenemia. (medlineplus.gov)
- Mutations in the fibrinogen aalpha gene account for the majority of cases of congenital afibrinogenemia. (medlineplus.gov)
- Molecular analysis of the fibrinogen gene cluster in 16 patients with congenital afibrinogenemia: novel truncating mutations in the FGA and FGG genes. (medlineplus.gov)
- in IVAMI perform detection of mutations associated with congenital afibrinogenemia, by complete PCR amplification of the exons of the FGA, FGB and FGG genes, respectively, and subsequent sequencing. (ivami.com)
- Congenital afibrinogenemia (Factor I deficiency) has been reported in a family of Saanen dairy goats but not in dogs or cats. (msdvetmanual.com)
Deficiency3
- Afibrinogenemia is defined as a deficiency or absence of fibrinogen (coagulation factor I) in the blood. (medscape.com)
- RIASTAP is indicated for the treatment of acute bleeding episodes in pediatric and adult patients with congenital fibrinogen deficiency, including afibrinogenemia and hypofibrinogenemia. (riastap.com)
- We are currently working with researchers for an EU study on prospective evaluation of patients affected with afibrinogenemia (factor I deficiency). (hemohelper.com)
Hypofibrinogenemia1
- The symptoms of hypofibrinogenemia are similar to but milder than those of afibrinogenemia. (mhmedical.com)
Dysfibrinogenemia1
- Fibrinogen disorders can be quantitative (afibrinogenemia) or qualitative (dysfibrinogenemia), and they may be congenital or acquired. (medscape.com)
Familial1
- This disorder may also be simply called afibrinogenemia or familial afibrinogenemia. (wikipedia.org)
Mutations3
- Patients are often heterozygous carriers of afibrinogenemia mutations and are usually asymptomatic. (nih.gov)
- Most of the identified mutations FGA, FGB and FGG genes in people with afibrinogenemia introduce a premature stop signal in the gene expression to form each of the proteins, respectively. (ivami.com)
- Afibrinogenemia is inherited as an autosomal recessive pattern, which means that both copies of the gene in every cell must have mutations for alteration is expressed. (ivami.com)
Coagulation2
- Consider other congenital coagulation factor deficiencies, most notably afibrinogenemia. (medscape.com)
- In afibrinogenemia, all coagulation tests reveal complete blood coagulation, but the evidence is the absence of clotting when thrombin is added to the recalcified plasma under study (plasma with calcium introduced into it, which takes part in the blood coagulation process). (treatment-diabetes-info.com)
Autosomal2
- Family afibrinogenemia (absence of fibrinogen in the blood plasma) is a rare disease that is inherited in an autosomal recessive manner. (treatment-diabetes-info.com)
- Afibrinogenemia is rare and is characterized by neonatal umbilical cord hemorrhage, intracranial and peritoneal bleeding, recurrent abortion, and autosomal recessive inheritance. (mhmedical.com)
Fibrinolysis2
- Faʻaitiitia le fibrinogen e masani ona maua i tagata mamaʻi ma le DIC consumptive coagulopathy poʻo fibrinolysis), faʻamaʻi muamua fibrinolytic, hepatitis ogaoga, cirrhosis ate, hypofibrinemia (poʻo afibrinogenemia), ma isi. (sinocareintl.com)
- At the risk of development or developed bleeding in patients with fibrinogen metabolism disorders (hyperfibrinolysis, hypo- and afibrinogenemia), the solution inhibits fibrinolysis activation by streptokinase, urokinase and tissue kinases, neutralizes effects of kallikrein, trypsin and hyaluronidase, reduces permeability of capillaries. (uf.ua)
Patients2
- Patients with afibrinogenemia are most likely to suffer from severe, potentially life-threatening bleeding episodes. (riastap.com)
- Il s'agit d'une étude transversale, monocentrique et descriptive, durant 12 mois, incluant les patients âgés d'au moins 18 ans admis en réanimation polyvalente pour un sepsis ou choc septique. (bvsalud.org)
Absence1
- Afibrinogenemia is characterized by the complete absence of immunoreactive fibrinogen. (nih.gov)
Bleeding4
- The biggest concern for individuals with afibrinogenemia is CNS hemorrhage, bleeding in the brain, which can be fatal. (wikipedia.org)
- citation needed] When a problem of fibrinogen is suspected, the following tests can be ordered: PT PTT Fibrinogen level in blood (total and clottable) Reptilase time Thrombin time Blood fibrinogen levels of less than 0.1 g/L and prolonged bleeding test times are indicators of an individual having afibrinogenemia. (wikipedia.org)
- Bleeding due to afibrinogenemia usually manifests in the neonatal period, with 85% of cases presenting umbilical cord bleeding, but a later age of onst is not unusual. (nih.gov)
- Bleeding with afibrinogenemia is usually not very pronounced, microcirculatory. (treatment-diabetes-info.com)
Abnormal1
- It is a measure of the conversion of FIBRINOGEN to FIBRIN, which is prolonged by AFIBRINOGENEMIA, abnormal fibrinogen, or the presence of inhibitory substances, e.g., fibrin-fibrinogen degradation products, or HEPARIN. (lookformedical.com)
Blood1
- Afibrinogenemia is a hemorrágic or caused by impaired blood clotting process. (ivami.com)
Rare1
- Afibrinogenemia congenitala, caracterizata prin lipsa completa a fibrinogenului, este una din cele mai rare deficiente de factori ai coagularii. (paginadenursing.ro)
Plasma1
- If heparin antagonists do not eliminate incoagulability, and the added fibrinogen normalizes the thrombin time of the plasma under investigation, then the diagnosis of afibrinogenemia is confirmed. (treatment-diabetes-info.com)
Hypofibrinogenemia8
- Patients with congenital hypofibrinogenemia/afibrinogenemia (CH/CA) maybe with various bleeding symptoms proportional to the low values of functional and antigenic fibrinogen (FIB) or may have thrombotic complications. (isth.org)
- Afibrinogenemia (a complete lack of fibrinogen) and hypofibrinogenemia (low levels of fibrinogen) are quantitative defects, meaning the amount of fibrinogen in the blood is abnormal. (ucdavis.edu)
- Mutations in this gene lead to several disorders, including dysfibrinogenemia, hypofibrinogenemia, afibrinogenemia and renal amyloidosis. (nih.gov)
- Hypofibrinogenemia, afibrinogenemia, dysfibrinogenemia and hypodysfibrinogenemia are most commonly occurring fibrinogen deficiency disorders. (pharmaproff.com)
- Hereditary fibrinogen abnormalities make up two classes of plasma fibrinogen defects: (1) type I, afibrinogenemia or hypofibrinogenemia, in which there are low or absent plasma fibrinogen antigen levels (quantitative fibrinogen deficiencies), and (2) type II, dysfibrinogenemia or hypodysfibrinogenemia, in which there are normal or reduced antigen levels associated with disproportionately low functional activity (qualitative fibrinogen deficiencies). (mhmedical.com)
- Afibrinogenemia is associated with mild to severe bleeding, whereas hypofibrinogenemia is often asymptomatic. (mhmedical.com)
- RiaSTAP was approved by the FDA in January and is indicated for the treatment of acute bleeding episodes in patients with congenital fibrinogen deficiency, including afibrinogenemia and hypofibrinogenemia. (csl.com)
- This can occur due to congenital conditions, including afibrinogenemia (complete lack of fibrinogen), hypofibrinogenemia, and in dysfibrinogenemia, a condition characterized by the presence of dysfunctional fibrinogen. (healthmatters.io)
Familial afibrinogenemia1
- This disorder may also be simply called afibrinogenemia or familial afibrinogenemia. (wikipedia.org)
Autosomal recessive disorder2
- Congenital afibrinogenemia is a rare autosomal recessive disorder that is caused by defects in the fibrinogen. (nih.gov)
- Afibrinogenemia is an autosomal recessive disorder, which means that both parents must carry the defective gene in order to pass it on to their child. (ucdavis.edu)
Hemorrhage1
- The biggest concern for individuals with afibrinogenemia is CNS hemorrhage, bleeding in the brain, which can be fatal. (wikipedia.org)
Disorder2
- Congenital afibrinogenemia is a rare, genetically inherited blood fibrinogen disorder in which the blood does not clot normally due to the lack of fibrinogen, a blood protein necessary for coagulation. (wikipedia.org)
- Congenital afibrinogenemia is a bleeding disorder caused by impairment of the blood clotting process. (medlineplus.gov)
Disorders1
- Like all autosomal recessive disorders, afibrinogenemia is found more frequently in areas of the world where marriage between close relatives is common. (ucdavis.edu)
Pregnancy2
Liver1
- A case from 2015 was seen in which congenital afibrinogenemia was resolved in a patient after receiving a liver transplant. (wikipedia.org)
Symptoms1
- Symptoms are similar to those seen in afibrinogenemia. (ucdavis.edu)
Protein1
- Congenital afibrinogenemia is caused by a complete absence of fibrinogen protein. (medlineplus.gov)
Results1
- 1. A deep intronic mutation in FGB creates a consensus exonic splicing enhancer motif that results in afibrinogenemia caused by aberrant mRNA splicing, which can be corrected in vitro with antisense oligonucleotide treatment. (nih.gov)
Present1
- Since there is no fibrinogen present during afibrinogenemia, fibrin can not be formed to aid in this process. (wikipedia.org)
Function1
- A suspicion of congenital afibrinogenemia may appear on a platelet aggregation function test. (wikipedia.org)