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Frequency of the Hemochromatosis Gene (HFE) and Serum Iron Indices in the Henan Population with the Han Nationality in China

Author: SongLiLi
Tutor: LiuYuFeng
School: Zhengzhou University
Course: Pediatrics
Keywords: Hereditary hemochromatosis HFE gene C282Y mutation H63D mutation Transferrin saturation (TS) Serum ferritin (SF) Iron overload
CLC: R55
Type: Master's thesis
Year: 2007
Downloads: 112
Quote: 0
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Abstract

Background hereditary hemochromatosis (hereditary haemochromatosis, HH) is a hereditary iron metabolism disorders. The incidence worldwide Caucasians higher incidence the Nordic crowd incidence of up to 1/200. About 1/10 of the white race is the HFE gene mutation carriers. HH the main features of intestinal iron absorption excess gradually parenchymal cells deposited in the liver, heart, pancreas and other endocrine organs, causing organ dysfunction, liver cirrhosis, heart failure, diabetes, hypopituitarism and joint diseases. Early diagnosis and treatment can prevent the occurrence of various complications. HH diagnosed untreated, its 10-year survival rate of 6%, 10 years after venesection productivity can be increased to 70%. In recent years, foreign scholars found that mutation of the HFE gene cause HH. The main form of HFE mutations: the C282Y mutation: the first nucleic acid level, 845 guanine instead of adenine (845G → A) caused the protein level of 282 tyrosine (Tyrosine) alternative cysteine ??(Cysteine); H63D mutation: the first nucleic acid level, 187 guanine replaces cytosine (187C → G) caused the protein level of 63 aspartic acid (Aspartate) instead of histidine (Histidine). 85% of the HH patients C282Y mutation can be detected, it is a relatively good HH identification mark. HFE gene mutations in the difference between the different races. According to reports, the investigation in Michigan, USA Caucasians (whites) in C282Y mutant allele frequency of approximately 5.7% and the H63D allele mutation frequency of approximately 14.0%. Race in Asia, such as Taiwan, Hong Kong, Japan, the Korean population survey found no C282Y mutation, the H63D mutation frequency of approximately 2.2%. At present, the Chinese mainland has not yet see C282Y and H63D mutations related investigative reporting. Research purposes, the survey China Henan Han HFE gene C282Y and H63D mutations in understanding the occurrence frequency of Henan HFE gene mutations and gene mutation type, HH early discovery, early diagnosis and early treatment of genetic screening method. Second, the understanding of the relationship of the HFE gene C282Y and H63D mutations in body iron overload. Object blood specimens: Henan Province, Han healthy adult blood samples of 600 were provided by the Blood Center of Henan Province. The First Affiliated Hospital of Zhengzhou University laboratory, more than 600 specimens of liver function, blood test, excluded without analysis will be able to affect the serum iron indices, such as alanine aminotransferase (ALT), aspartate aminotransferase (AST) Hemoglobin (Hb), hematocrit (HCT), mean corpuscular volume (MCV), abnormal white blood cell (WBC). In this study, excluding 82 cases of abnormal specimens analysis of 518 cases of healthy blood donors blood sample. 293 male, 225 female, age 18 to 50 years old, the age of the mean (± SD) was 29.30 ± 9.74 years. All subjects were free of cardiovascular, liver, kidneys and endocrine disorders caused by the clinical and biochemical manifestations. Method specimens the EDTA anticoagulant 2ml used for DNA extraction and PCR analysis of blood. Specimens dry test tube of blood specimens 5ml, the centrifugal packing serum, which is used to detect serum iron indices. 1. C282Y and H63D genotype analysis: PCR and restriction endonuclease analysis of C282Y and H63D mutations of more than 518 samples. Genomic DNA extracted from EDTA anticoagulant. The ref design primers, the two regions of PCR gene amplification, using a 2% agarose gel electrophoresis and UV transmittance analyzer observed. Select amplification specificity of the PCR samples were Rsa Ⅰ (C282Y) and Mbo Ⅰ (H63D) restriction enzyme digestion, reactant 2% agarose electrophoresis. The application of gel imaging system for imaging processing. 2. Iron parameters were measured: the use of iron kit and total iron binding capacity kit and human serum iron protease linked immunosorbent quantitative detection kit simultaneous determination of 518 samples of serum iron concentration, total iron binding capacity and ferritin. Serum iron divided by total iron binding capacity multiplied by 100 percent transferrin saturation (transferrin saturation TS). Results 1. C282Y and H63D genotype: 518 samples no C282Y mutation; for H63D detected, 22 heterozygous mutations, more than 496 normal homozygotes. The H63D heterozygous gene mutation frequency was 4.2% allele mutation frequency was 2.1%. U test method using two-sample rate comparison Henan Han Caucasian C282Y and H63D gene mutation frequency differences. After statistical analysis, the difference was statistically significant (P lt; 0.05). 2. Serum iron parameters were measured: 518 Henan Han samples, the average male age 29.52 ± 9.58 years old, female average age of 29.07 ± 9.97 years. Measured TS values ??(± SD) was 41.7 ± 15.4%, SF values ??(± SD) of 116 ± 53ng/ml, were higher than Caucasian TS and SF values ??(24.6 ± 5.8% and 99 ± 51ng/ml). Group design information u test method to compare the difference between the two. After statistical analysis, the difference was statistically significant (P lt; 0.05). Male TS (43.7 ± 15.6%) and SF (142 ± 65ng/ml) were higher than females (37.3 ± 13.9%) and (91 ± 53ng/ml), between age and TS and SF, whether male or female no significant correlation. 3. H63D genotype and serum iron: H63D heterozygous mutant C / G heterozygotes TS value of 43.9 ± 15.5%, SF value of 119 ± 53ng/ml; H63D not mutant C / C homozygotes TS value of 40.1 ± 15.7% SF value of 102 ± 46ng/ml, into a set of design data t test comparing differences in Henan Han the H63D mutations Group unmutated group iron indicators. After statistical analysis, the difference was not statistically significance (P gt; 0.05). Conclusion 1, HH the dangers, noninvasive detection of HFE gene diagnosis method is simple and practical, the test by China Henan Han HFE C282Y and H63D gene mutation frequency survey provides a method for conducting genetic screening of the neonatal period ; opened the way for HH patients with early diagnosis, early treatment and early prevention. 2, the China Henan Han HFE gene mutation frequency is lower than in Europe, North Caucasians, this HFE gene mutation frequency differences may be Chinese hereditary hemochromatosis, the incidence is lower than in Europe, one of the reasons of the North American white . 3, simple H63D heterozygous mutation does not cause increased TS and SF does not cause the occurrence of hereditary hemochromatosis. China Henan Han TS and SF values ??higher than Caucasian people is not caused by the C282Y and H63D mutations. 4, the survey clearly reflect the of Henan Han HFE gene mutation frequency of occurrence, type and relationship with serum ferritin, provides the basis for further epidemiological studies of disease-oriented.

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