Academic literature on the topic 'Mutation h63d'
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Journal articles on the topic "Mutation h63d"
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Nanah, Rama, Mrinal Patnaik, Naseema Gangat, Darci Zblewski, Rong He, Phuong L. Nguyen, Michelle A. Elliott, William J. Hogan, Mark Robert Litzow, and Aref Al-Kali. "Clinical significance of HFE gene mutations in patients with refractory anemia with ring sideroblasts (RARS)." Journal of Clinical Oncology 35, no. 15_suppl (May 20, 2017): e18556-e18556. http://dx.doi.org/10.1200/jco.2017.35.15_suppl.e18556.
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e18556 Background: RARS is a subtype of myelodysplastic syndromes (MDS) defined by < 5% blasts and ≥15% ring sideroblasts (WHO 2008). Hereditary hemochromatosis is a disorder characterized by dysregulations in iron absorption, largely associated with C282Y and H63D mutations of the HFE gene. Iron levels are elevated in both disorders and pathophysiologic correlations were suggested. HFE gene mutations were previously found higher in MDS compared to controls (50% vs 36%) ( Nearman et al, Am J Hematol 2007). Methods: A total of 168 RARS patients’ data from 1994 to 2015 at Mayo Clinic were reviewed after appropriate IRB approval was obtained. All cases had their bone marrow slides reviewed at our center. We searched patients’ records retrospectively to Identify those tested for HFE gene (C282Y, H62D, S65C) mutations, done inside or outside our institution. Survival estimates were calculated using Kaplan-Meier curves. Results: Out of the 168 RARS patients, only 17 (10%) were tested for HFE gene mutations. Out of the 17 tested, 11 (65%) were found to have mutations; 2 of which (18%) had homozygous H63D mutation, 1 patient (9%) had double heterozygous H63D and C282Y mutations, 5 (45%) had only one H36D heterozygous mutation vs 3 patients (27%) with only one C282Y heterozygous mutation. Only one patient was tested for the additional S65C mutation and it was not detected. H63D mutation was present in a total of 8 patients (73%) vs C282Y mutation which was present in 4 patients (36%). Bone marrow iron stores were increased in all 17 tested patients, except one who had decreased stores, this patient had one heterozygous C282Y mutation. Median overall survival (mOS) was 117 months in the HFE mutated patients vs 75 months in the non-mutated (p = 0.6). Conclusions: Our study found the HFE gene, when tested, to be mutated in higher frequencies among patients with RARS compared to that reported in the general population (65% vs 36%), with H63D mutation in almost three quarters of all mutated patients. Although it did not reach statistical significance, the longer survival observed among HFE mutated patients compared to the wild-type raises the question whether testing for HFE gene mutations among patients with MDS-RARS should be further explored.
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Ali, Nadir, Bashir Ahmed, Humaira Akram, Junaid Akhtar, Ross Williams, and Ron Dixon. "HFE GENE MUTATIONS." Professional Medical Journal 25, no. 01 (January 10, 2018): 129–34. http://dx.doi.org/10.29309/tpmj/2018.25.01.551.
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Objectives: To determine the frequency of two common HFE Gene Mutations(C282Y & H63D) in an immigrant population (British Pakistanis) in UK. Study Design: Crosssectional study. Setting: University of Lincoln UK. Duration: Duration of study was 12 monthsfrom 01/09/2012 to 31/08/2013. Material and Methods: Two hundred immigrant Pakistani (BP)chromosomes (100 samples; 50 male and 50 female) from major cities of UK and 200 ancestralorigin Pakistani chromosomes (100 samples; 50 male and 50 female) were analysed by PCRRFLPfor the presence of the H63D and C282Y mutations. Results: Eight individuals were foundto be heterozygous for the H63D mutation and one individual was found to be homozygousfor the H63D mutation, therefore, the H63D mutation was observed to have a frequency of 8%in immigrant Pakistani (BP) population sample and similar results were observed in ancestralorigin population from Pakistan. The C282Y mutation was not detected at all. Conclusion: Wefound that our results are close to Saudi-Arabian and Indian population (8.5% & 9.1% H63Dmutation, respectively) and in accordance with the global spread of the H63D mutation.
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Tursinawati, Yanuarita, Nyoman Suci Widyastiti, and Moedrik Tamam. "IDENTIFIKASI MUTASI H63D GEN HFE PADA KELAINAN HBE." INDONESIAN JOURNAL OF CLINICAL PATHOLOGY AND MEDICAL LABORATORY 22, no. 2 (March 27, 2018): 176. http://dx.doi.org/10.24293/ijcpml.v22i2.1123.
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The H63D HFE mutation has been reported to be responsible for primary haemochromatosis. The allele frequency in Indonesianpopulation is about 2.8%. Co inheritance between H63D mutation and hemoglobin disorders such as Thalassemia may increase theseverity of iron overload. Nevertheless, the coinheritance of this mutation with HbE disorder is the most common hemoglobin disorderin Indonesia and the gene frequency have not been reported especially in Javanese ethnic. To identify the presence and the frequency ofH63D HFE mutation in HbE disorder among Javanese ethnic. A cross sectional study involved 24 Javanese individuals who consist of21 HbE heterozygotes (HbAE) and 3 HbE homozygotes (HbEE) subjects. The subjects were screened for H63D mutation by digestion ofPCR products with MbO I restriction endonuclease. The genotype frequency for wt/wt was 95.24% in HbAE, 100% in HbEE and for wt/H63D was 4.76% in HbAE. The allele frequency for H63D HFE mutation was 2.08% in total sample of HbE. The allele frequencies inHbAE and HbEE individual were 2.38% and 0%, respectively. H63D HFE mutation is found in 24 Javanese ethnic individual with HbEdisorder. However, the allele frequency of H63D HFE mutation is low and almost similar to the allele frequency of H63D HFE mutationin Indonesian population.
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Bradley, L. A., D. D. Johnson, G. E. Palomaki, J. E. Haddow, N. H. Robertson, and R. M. Ferrie. "Hereditary haemochromatosis mutation frequencies in the general population." Journal of Medical Screening 5, no. 1 (March 1, 1998): 34–36. http://dx.doi.org/10.1136/jms.5.1.34.
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Objectives This study aims to expand our knowledge of the general population frequency of two mutations, C282Y and H63D, identified in the candidate gene for hereditary haemochromatosis, and to determine whether the testing can be performed using routinely obtained cheek-brush (buccal) samples. Setting Banked buccal lysate samples, randomised and coded for anonymity, from a cohort of couples who underwent prenatal cystic fibrosis screening in Maine. Methods A multiplex ARMS test was performed on buccal cell lysates to identify the two mutations. Results Genotype frequencies found among the 1001 subjects studied (502 women, 499 men) were: seven C282Y homozygotes, 22 C282Y/H63D compound heterozygotes, 97 C282Y heterozygotes, 17 H63D homozygotes, 246 H63D heterozygotes, and 612 individuals with no detectable mutation. The allele frequencies for C282Y and H63D were 0.066 and 0.151, respectively. Conclusions Observed genotype frequencies in Maine are consistent with expectations and with consensus data from five smaller studies. Combined mutational analysis data indicate that homozygosity for C282Y (the genotype found in about 85% of subjects with diagnosed hereditary haemochromatosis) occurs in 51 per 10 000 white subjects of northern European heritage; the corresponding total hereditary haemochromatosis prevalence of about 60 per 10 000 is consistent with previous estimates. The study also confirms that H63D would not be useful in general population screening for hereditary haemochromatosis.
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El-Beshlawy, Amal, Manal Michel Wilson, Elwakeel Hanan, Mona Elghmarwy, Fadwa Said, and Mary Assaad. "Study of the Effect of HFE Gene Mutations on Iron Overload in Egyptian Thalassemia Patients." Blood 124, no. 21 (December 6, 2014): 1359. http://dx.doi.org/10.1182/blood.v124.21.1359.1359.
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Abstract Introduction: β-thalassemia is a common genetic disorder affecting the β-globin gene, characterized by ineffective erythropoiesis and iron overload. It is the most common hereditary hemolytic anemia in Egypt(85.1%)with a carrier rate of 5.3to 9% and annual birth of 1000/1.5million live births born with the disease. Mutations in the HFE gene have been shown to be responsible for hereditary hemochromatosis, an autosomal recessive disease of iron overloading. The effect of these mutations on iron load in β- thalassemia patients and carriers remains controversial. Interaction between β- thalassemia and hemochromatosis may increase the likelihood of developing iron overload in thalassemic patients and thus may require early iron chelation. Objectives:In this cross-sectional case-control study, we aimed to determine the prevalence of HFE gene mutations (C282Y and H63D) in β- thalassemia patients and carriers and to investigate the effect of these mutations on their serum ferritin levels. Patients and Methods: A total of100 β-thalassemia subjects; 75 β- thalassemia patients (homozygous or compound heterozygous) and 25 carriers were screened for HFE gene mutations (H63D and C282Y) by polymerase chain reaction-restriction fragment length polymorphism method (PCR-RFLP). Serum ferritin was measured for all subjects by enzyme-linked immunosorbant assay (ELISA) and β-globin gene mutations were determined by reverse hybridization technique. All β- thalassemia patients (45 males and 30 females with mean age 3.2 + 2.7 years) were diagnosed and followed at at our Pediatric Hematology Clinic. Their baseline serum ferritin at diagnosis was evaluated in relation to the HFE mutations. Twenty-five heterozygotes for β- thalassemia attending for genetic screening or parents or sibs of our patients were enrolled as carriers. All subjects and/or guardians gave informed consent before enrollment. Results: Twenty- eight of 75 β- thalassemia patients (37.3%) were heterozygotes for the H63D mutation (H/D), 8 (10.7%) were D/D homozygotes and 39 (52%) were negative for the mutation( H/H homozygotes). Among carriers, 4 (16%) were D/D homozygotes and 21 (84%) were H/H homozygotes(Fig1) . The C282Y mutant allele was not detected in any of patients or carriers. The median serum ferritin level was significantly higher in β- thalassemia patients compared to carriers (386 vs. 216 ng/ml; p=0.03). Serum ferritin levels were compared according to H63D genotypes in β- thalassemia patients and carriers (Table 1). There were significantly high levels of serum ferritin in β-thalassemia patients who were heterozygotes or homozygotes for the H63D mutation compared to those without the mutation (p=0.000).B-Thalassemia carriers homozygotes for the H63D mutation showed significantly higher serum ferritin levels compared to those without the mutation (P<0.001). The most prevalent underlying genetic mutation of β globin gene in our β-thalassemia patients was IVS 1.110 mutation followed by IVS 1.6. This study showed no correlation between these mutations and the H63D genotype. Conclusion:Homozygosity for the H63D mutation tend to be associated with higher ferritin levels in beta-thalassemia patients and carriers compared to the H/H genotype, suggesting that the H63D mutation may have a modulating effect on iron load. Screening of H63D mutation in β-thalassemia patients may predict patients with more tendency to develop early iron overload. Proper timely management of these patients prevents the hazard of iron overload. Figure (1): H63D polymorphism of the HFE gene in β-thalassemia patients and carriers Figure (1):. H63D polymorphism of the HFE gene in β-thalassemia patients and carriers Abstract 1359. Table 1: Serum ferritin levels in β-thalassemia patients and carriers according to their H63D genotype H63D Genotype β-thalassemia patients (n=75) β-thalassemia carriers (n=25) No. of subjects (%) Ferritin (ng/ml) Mean + SD P value No. of subjects (%) Ferritin (ng/ml) Mean + SD P value H/H H/D D/D 39(52%) 28 (37.3) 8(10.7%) 297.2 + 175.8 565.3 + 358 920.4 + 508.2 <0.001* 21(84%) - 4(16%) 221.9 + 142.9 - 969.8 + 290.3 <0.001* p-values: H/H vs. H/D; H/D vs. D/D;H/H vs. D/D < 0.001* Disclosures No relevant conflicts of interest to declare.
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Alvarez, S., M. S. Mesa, F. Bandrés, and E. Arroyo. "C282Y and H63D Mutation Frequencies in a Population from Central Spain." Disease Markers 17, no. 2 (2001): 111–14. http://dx.doi.org/10.1155/2001/350460.
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Objectives:To determine the frequency of hereditary hemochromatosis gene mutations, C282Y and H63D, from 125 autochthonous blood donors originating from a Central region of Spain, to provide epidemiological data about HFE gene in the Iberian Peninsula.Methods:DNA extracted from blood samples was analyzed by PCR-RFLP. Restriction enzimes were Snab I and Bcl I for C282Y and H63D, respectively. Results were visualized with Ethidium Bromide staining after gel electrophoresis.Results and discussion:C282Y frequency was 0.02 and that of H63D was 0.16. Result for C282Y mutation falls within the range of variation of the Mediterranean populations. H63D frequency agrees with those reported for other European populations. In both cases frequencies obtained are the lowest of compared Spanish data.Conclusions:This study is useful to compare expected versus presented C282Y and H63D frequencies in Spanish populations and to contribute to the knowledge of Spanish variability, rarely analyzed until now for HFE gene mutations.
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Gabriková, Dana, Iveta Boroňová, Ivan Bernasovský, Regina Behulová, Soňa Mačeková, Alexandra Bôžiková, Adriana Sovičová, et al. "Hemochromatosis gene mutations in the general population of Slovakia." Open Medicine 6, no. 2 (April 1, 2011): 148–51. http://dx.doi.org/10.2478/s11536-010-0067-9.
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AbstractThis is an epidemiologic study of the Slovak population with the aim of determining the frequencies of three hemochromatosis gene (HFE) variants C282Y, H63D and S65C known to be associated with manifestation of hereditary hemochromatosis and to assess deviations of these frequencies from those reported elsewhere. Mutations were detected in 359 ethnic Slovaks by real-time PCR assay based on TaqMan technology. The allelic frequencies were 4.03% for C282Y, 12.67% for H63D and 1.25% for S65C mutation. We observed 0.28% of C282Y/C282Y homozygotes, 3.34% H63D/H63D homozygotes, 0.84% of C282Y/H63D compound heterozygotes and 0.56% of H63D/S65C compound heterozygotes. This is the first time the frequencies of H63D and S65C mutations have been reported in the general population in Slovakia. The observed allelic frequencies are consistent with the previous studies of Slavic and Central European populations.
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Enein, Azza Aboul, Nermine A. El Dessouky, Khalda S. Mohamed, Shahira K. A. Botros, Mona F. Abd El Gawad, Mona Hamdy, and Nehal Dyaa. "Frequency of Hereditary Hemochromatosis (HFE) Gene Mutations in Egyptian Beta Thalassemia Patients and its Relation to Iron Overload." Open Access Macedonian Journal of Medical Sciences 4, no. 2 (June 1, 2016): 226–31. http://dx.doi.org/10.3889/oamjms.2016.055.
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AIM: This study aimed to detect the most common HFE gene mutations (C282Y, H63D, and S56C) in Egyptian beta thalassemia major patients and its relation to their iron status. SUBJECTS AND METHODS: The study included 50 beta thalassemia major patients and 30 age and sex matched healthy persons as a control group. Serum ferritin, serum iron and TIBC level were measured. Detection of the three HFE gene mutations (C282Y, H63D and S65C) was done by PCR-RFLP analysis. Confirmation of positive cases for the mutations was done by sequencing.RESULTS: Neither homozygote nor carrier status for the C282Y or S65C alleles was found. The H63D heterozygous state was detected in 5/50 (10%) thalassemic patients and in 1/30 (3.3%) controls with no statistically significant difference between patients and control groups (p = 0.22). Significantly higher levels of the serum ferritin and serum iron in patients with this mutation (p = 001).CONCLUSION: Our results suggest that there is an association between H63D mutation and the severity of iron overload in thalassemic patients.
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Nie, Ling, Lin Yang, Qinghua Li, Jianxiang Wang, and Zhijian Xiao. "Incidence of HFE Gene Mutations in Chinese Patients with Myelodysplastic Syndrome and Aplastic Anemia." Blood 112, no. 11 (November 16, 2008): 5085. http://dx.doi.org/10.1182/blood.v112.11.5085.5085.
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Abstract The C282Y and H63D mutations of HFE gene responsible for hereditary hemochromatosis lead to absorption of excess dietary iron, tissue iron deposition and occurrence of clinical complications such as congestive heart failure, arrhythmia, hepatocellular cirrhosis, insulin resistance and diabetes. Iron overload is one important clinical feature in patients with myelodysplastic syndrome (MDS) and aplastic anemia(AA). However, the conflict has been existing about influence of HFE gene mutations on iron overload in MDS patients. In the present study, we analyzed the incidence of the C282Y and H63D mutations of HFE gene in 271 MDS patients, 402 AA patients and 1615 healthy controls by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP). No C282Y mutations and compound heterozygote were observed in the entire cohort. The genotype distribution of H63D heterozygous and homozygous did not differ significantly in AA cases from those in controls(9.7%vs. 10.2%, 0.25%vs. 0.24% respectively, Pearson Chi-square p both >0.05). While the frequency of the H63D heterozygous in MDS patients was significantly lower than controls (4.1%vs. 10.7%, Pearson Chi-square p=0.002). H63D homozygous was not found in MDS patients. The incidence of C282Y and H63D mutations of HFE gene in Chinese MDS cases is lower than those reported in the literature. Comparing the pretransfusion serum ferritin(SF), serum iron concentration(SI) and transferrin saturation values(TS) between HFE-mutation and HFE-wild MDS groups, we did not find a significant difference (all P>0.05); However, Only SI values were significantly higher in the HFE-mutation AA cases than those in HFE-wild ones[42.6(24.6–60.4)umol/Lvs. 32.0(8.4–63.3)umol/L, P=0.011]. We further estimated the function of important organs in MDS and AA patients. There is no significantly difference in Alanine amino transferase (ALT), Aspartate amino transferase (AST), fasting blood sugar, and electrocardiogram(ECG) between HFE-mutation and HFE-wild MDS and AA groups irrespective of the red blood cell transfusion history. The results suggest that the distribution of C282Y and H63D mutations has ethnic and genetic differences, and is very rare in Chinese population. The mutations of HFE gene are not main factors of iron overload in Chinese patients with myelodysplastic syndrome and aplastic anemia.
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Mura, Catherine, Odile Raguenes, and Claude Férec. "HFE Mutations Analysis in 711 Hemochromatosis Probands: Evidence for S65C Implication in Mild Form of Hemochromatosis." Blood 93, no. 8 (April 15, 1999): 2502–5. http://dx.doi.org/10.1182/blood.v93.8.2502.
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Abstract Hereditary hemochromatosis (HH) is a common autosomal recessive genetic disorder of iron metabolism. The HFE candidate gene encoding an HLA class I-like protein involved in HH was identified in 1996. Two missense mutations have been described: C282Y, accounting for 80% to 90% of HH chromosomes, and H63D, which is associated with a milder form of the disease representing 40% to 70% of non-C282Y HH chromosomes. We report here on the analysis of C282Y, H63D, and the 193A→T substitution leading to the S65C missense substitution in a large series of probands and controls. The results confirm that the C282Y substitution was the main mutation involved in hemochromatosis, accounting for 85% of carrier chromosomes, whereas the H63D substitution represented 39% of the HH chromosomes that did not carry the C282Y mutation. In addition, our screening showed that the S65C substitution was significantly enriched in probands with at least one chromosome without an assigned mutation. This substitution accounted for 7.8% of HH chromosomes that were neither C282Y nor H63D. This enrichment of S65C among HH chromosomes suggests that the S65C substitution is associated with the mild form of hemochromatosis.
Dissertations / Theses on the topic "Mutation h63d"
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Foucher, Karine. "Rôle de la mutation H63D du gène HFE : étude comparative de 83 sujets hétérozygotes composites C282Y/H63D et de 52 hétérozygotes simples C282Y." Montpellier 1, 1999. http://www.theses.fr/1999MON11132.
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Bismuth, Michaël. "Homozygotie H63D : existe-t'il un lien avec l'hémochromatose génétique et les surcharges martiales ?" Montpellier 1, 1999. http://www.theses.fr/1999MON11008.
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Le?o, Gioconda Dias Rodrigues. "An?lise das muta??es C282Y e H63D no gene da prote?na HFE em pacientes com hiperferritinemia." Universidade Federal do Rio Grande do Norte, 2007. http://repositorio.ufrn.br:8080/jspui/handle/123456789/13434.
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Previous issue date: 2007-08-29Hereditary Hemochromatosis (HH) is a genetic disease caused by high iron absorption and deposition in several organs. This accumulation results in clinical disturbances such as cirrhosis, arthritis, cardiopathies, diabetes, sexual disorders and skin darkening. The H63D and C282Y mutations are well defined in the hemochromatosis etiology. The aim of this paper was that of identifying the H63D and C282Y genetical mutations in the hemochromatosis gene and the frequency assessment of these mutations in the HFE protein gene in patients with hyperferritin which are sent to the DNA Center laboratory in Natal, state of Rio Grande do Norte. This paper also evaluates the HH H63D and C282Y gene mutations genotype correlation with the serum ferritin concentration, glucose, alanine aminotransferasis, aspartato aminotransferasis, gama glutamil transferasis and with the clinical complications and also the interrelation with life habits including alcoholism and iron overload. The biochemical dosages and molecule analyses are done respectively by the enzymatic method and PCR with enzymatic restriction. Out of the 183 patients investigated, 51,4% showed no mutation and 48,6% showed some type of mutation: 5,0% were C282Y heterozygous mutation; 1,1%, C282Y homozygous mutation; 31%, H63D heterozygous mutation; 8,7%, H63D homozygous mutation; and 3,3%, heterozygous for the mutation in both genes. As to gender, we observed a greater percentage of cases with molecular alteration in men in relation to women in the two evaluated mutations. The individuals with negative results showed clinical and lab signs which indicate hemochromatosis that other genes could be involved in the iron metabolism. Due to the high prevalence of hemochromatosis and taking into account that hemochromatosis is considered a public health matter, its gravity being preventable and the loss treatment toxicity, the early genetic diagnosis is indicated, especially in patients with high ferritin, and this way it avoids serious clinical manifestations and increases patients' life expectation. Our findings show the importance of doing such genetic studies in individuals suspected of hereditary hemochromatosis due to the high incidence of such a hereditary disease in our region
A hemocromatose heredit?ria (HH) ? uma doen?a gen?tica causada pela absor??o e deposi??o elevada de ferro em v?rios ?rg?os. Este ac?mulo resulta em complica??es cl?nicas como cirrose, artrite, cardiopatias, diabetes, desordens sexuais e escurecimento da pele. As muta??es H63D e C282Y est?o bem definidas na etiologia da hemocromatose. O objetivo deste trabalho foi a identifica??o das muta??es gen?ticas H63D e C282Y no gene da Hemocromatose e avalia??o da freq??ncia dessas muta??es no gene da prote?na HFE em pacientes com hiperferritinemia que s?o encaminhados ao laborat?rio DNA Center Natal / RN. Al?m disso, avaliar a correla??o dos gen?tipos das muta??es H63D e C282Y do gene da HH com a concentra??o s?rica da ferritina, glicose, alanina aminotransferase, aspartato minotransferase, gt e com as complica??es cl?nicas e ainda a interrela??o com os h?bitos de vida incluindo o etilismo e dieta com sobrecarga de ferro. As dosagens bioqu?micas e an?lises moleculares foram realizadas respectivamente atrav?s do m?todo enzim?tico e PCR com restri??o enzim?tica. Dos 183 pacientes investigados 51,4% apresentaram aus?ncia de muta??o e 48,6% com algum tipo de muta??o: 5,0% C282Y heterozigoto mutado; 1,1% C282Y homozigoto mutado; 31% H63D heterozigoto mutado; 8,7% H63D homozigoto mutado; e 3,3% heterozigoto para a muta??o em ambos os genes. Com rela??o ao sexo, observou-se o maior percentual de casos com altera??o molecular em homens em rela??o a mulheres nas duas muta??es avaliadas. Os indiv?duos com resultados negativos apresentaram sinais cl?nicos e laboratoriais indicativos de hemocromatose sugerindo que outros genes poder?o estar envolvidos no metabolismo do ferro. Devido ? alta preval?ncia da hemocromatose, e tendo em vista que a hemocromatose ? considerada um problema de sa?de p?blica, sua gravidade ser preven?vel e a baixa toxicidade do tratamento, o diagn?stico gen?tico precoce torna-se indicado, principalmente nos pacientes com ferritina elevada, e com isso evitar manifesta??es cl?nicas graves e aumentar a expectativa de vida dos pacientes com esta doen?a. Nossos achados mostram a import?ncia da realiza??o de estudos gen?ticos em indiv?duos com suspeita de hemocromatose heredit?ria em virtude de elevada incid?ncia dessa doen?a de cunho heredit?rio em nossa regi?o
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Vieira, Fatima Mendonça Jorge. "Porfiria cutânea tardia com mutações do gene da hemocromatose C282Y e H63D e análise retrospectiva do perfil de ferro em relação ao tratamento: estudo de 60 casos." Universidade de São Paulo, 2012. http://www.teses.usp.br/teses/disponiveis/5/5133/tde-24012013-170707/.
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Fundamentos: A porfiria cutânea tardia é a forma mais comum das porfirias e caracteriza-se pela diminuição da atividade da enzima uroporfirinogênio descarboxilase. Há vários relatos da associação das mutações do gene HFE da hemocromatose hereditária com porfiria cutânea tardia no mundo, mas até hoje apenas um estudo foi realizado no Brasil. Objetivo: Estudar a associação da porfiria cutânea tardia com as mutações C282Y e H63D do gene HFE da hemocromatose hereditária. Identificar a associação com etilismo, hepatite C, hepatite B e infecção pelo HIV e relacioná-los com a presença ou não das mutações do gene HFE e estudar retrospectivamente a resposta terapêutica à cloroquina. Métodos: Estudo ambispectivo para detectar as mutações C282Y e H63D em 60 pacientes com porfiria cutânea tardia no período de 2003 até 2012. O histórico familiar, etilismo, hepatite C, hepatite B e anti-HIV foram investigados. O estudo das mutações HFE foi realizado com PCR em tempo real. A resposta terapêutica foi avaliada utilizando a dosagem das porfirinas urinárias (urina de 24 horas), o perfil de ferro (ferro sérico, ferritina e saturação de transferrina) e as enzimas hepáticas antes e após a remissão bioquímica. Resultados: A frequência dos alelos das mutações foi significativamente mais elevada nos pacientes com PCT para C282Y (8,3% versus 1,77%, odds ratio 5,02, IC [95%] = [4,1%; 14,8%], p=0,0001) e H63D (27,5% versus 14,05, odds ratio 2,32, IC [95%] = [19,7%; 36,4%], p=0,0004) em relação à população grupo controle. A hepatite C estava presente em 41,7% dos pacientes e estava associada à ingestão de álcool em 71,7% dos casos. Conclusões: As mutações HFE e a expressão clínica da hemocromatose hereditária podem contribuir isoladamente para o desencadeamento da PCT, independente-mente da presença de outros fatores precipitantes; o que torna a pesquisa das mutações HFE um exame necessário nos pacientes com PCT. Nos pacientes homozigotos para C282Y e heterozigotos compostos (C282Y/H63D) a flebotomia é o tratamento de primeira escolha. A porfiria cutânea tardia pode ser um marcador cutâneo para a hemocromatose e o dermatologista pode auxiliar no seu diagnóstico e tratamento precoce.Background: Porphyria cutanea tarda (PCT) is the most common form of porphyria and is characterized by the decreased activity of the uroporphyrinogen decarboxylase enzyme. Several reports associated HFE gene mutations of hereditary hemochromatosis with PCT worldwide, although up to date only one study has been conducted in Brazil. Objective: Study the association between porphyria cutanea tarda and C282Y and H63D mutations in the HFE gene of hereditary hemochromatosis. Identify the association with alcoholism, hepatitis C, hepatitis B and HIV infection and relate them with the presence or absence of the HFE gene mutations and study retrospectively the therapeutic response to chloroquine. Methods: Ambispective study in the period from 2003 to 2012 to detect the C282Y and H63D mutations in 60 patients with porphyria cutanea tarda. The family history, alcoholism, hepatitis C, hepatitis B and HIV were investigated. HFE mutations were held with real-time PCR. The therapeutic response was assessed using the urinary porphyrins (24h urine), the iron profile (serum iron, ferritin and transferrin saturation) and the liver enzymes, before and after biochemical remission. Results: The frequency of alleles of the mutations were significantly higher in patients with PCT for C282Y (8.3% vs. 1.77%, odds ratio 5.02, CI [95%] = [4.1%; 14.8%], p = 0.0001) and H63D (27.5% vs. 14.05, odds ratio 2.32, CI [95%] = [19.7% and 36.4%], p = 0.0004) in relation to group control population. Hepatitis C was found in 41.7% of the patients and was associated with the ingestion of alcohol in 71.7% of cases. Conclusions: The HFE mutations and clinical expression of hereditary hemochromatosis can contribute in an isolated manner to the outbreak of PCT, independently of the existence of other precipitating factors. This makes the search for HFE mutations necessary in patients with PCT. In patients who are homozygous for C282Y and compound heterozygotes (C282Y/H63D) phlebotomy is the treatment of first choice. Porphyria cutanea tarda can be a cutaneous marker for hemochromatosis and the dermatologist can help in its diagnosis and early treatment.
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Varga, Daniel. "Screening of candidate genes for mutations causing hereditary hemochromatosis in patients lacking the common mutations C282Y and H63D /." [S.l.] : [s.n.], 2008. http://opac.nebis.ch/cgi-bin/showAbstract.pl?sys=000277048.
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Shiono, Yuhta, Hisao Hayashi, Shinnya Wakusawa, Fujiko Sanae, Toshikuni Takikawa, Motoyoshi Yano, Kenntaro Yoshioka, and Hiros Saito. "Body iron stores and Iron restoration rate in Japanese patients with chronic Hepatitis C as measured during therapeutic Iron removal revealed neither Increased body iron stores nor effects of C282y and H63d mutations on iron indices." Nagoya University School of Medicine, 2001. http://hdl.handle.net/2237/5367.
Full textBooks on the topic "Mutation h63d"
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Moalem, Sharon. The involvement of hereditary hemochromatosis mutations (C282Y & H63D) in familial Alzheimer disease and Parkinson disease and their purported origins through epidemic pathogenic selection. 2003.
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Meadows, Cindy A., Marec Phillips, Ming Y. Huang, and Elaine Lyon. "Simultaneous Detection of C282Y and H63D Hemochromatosis Mutations Using LCRed 640 and LCRed 705 Labeled Hybridization Probes." In Rapid Cycle Real-Time PCR, 127–34. Berlin, Heidelberg: Springer Berlin Heidelberg, 2001. http://dx.doi.org/10.1007/978-3-642-59524-0_15.
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