Genetic haemochromatosis
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Hereditary hemochromatosis is a genetic condition associated with severe liver disease and various other health complications. Timely diagnosis and intervention are paramount in mitigating potential complications stemming from this disorder. If there is a family history of hemochromatosis, it is advisable to discuss testing for hereditary hemochromatosis with your healthcare provider. Haemochromatosis is a hereditary condition characterized by the gradual accumulation of iron levels in the body over extended periods.
This iron overload can lead to uncomfortable symptoms and, if left untreated, may result in damage to various organs including the liver, joints, pancreas, and heart. Haemochromatosis, a common autosomal recessive disorder prevalent among Caucasians, results in iron overload. Molecular studies have revealed that mutations in the HFE gene predominantly contribute to the disease. Although the homozygous state of the C282Y mutation remains the most prevalent genotype in patients, other genes and genetic mutations are also associated with haemochromatosis.
Haemochromatosis type 2, characterized by a severe form with juvenile onset, stems from mutations in an unidentified gene on chromosome 1q. Haemochromatosis type 3 is linked to a locus on 7q22 and arises from mutations in the transferrin receptor 2. Meanwhile, haemochromatosis type 4, the only autosomal dominant form, is attributed to mutations in ferroportin 1 on 2q32.
Follow the link of the selected polymorphism to read a brief description of how the selected polymorphism affects Iron and ferritin and see a list of existing studies.
SNP polymorphisms related to the topic Iron and ferritin:
| rs1049296 | Variants in iron metabolism genes predict higher blood lead levels in children. |
| rs855791 | Variant in transferrin genes as potential risk markers for iron deficiency anaemia. Affects haemoglobin A1(C) levels through glycaemic and non-glycaemic pathways. |
| rs2235321 | The gene variant alters hepcidin but not plasma iron in response to oral iron administration in healthy adults. Hepcidin is a peptide hormone, a universal humoral regulator of plasma iron concentration and distribution in tissues. |
| rs2413450 | The gene variant alters hepcidin but not plasma iron in response to oral iron administration in healthy adults. Hepcidin is a peptide hormone, a universal humoral regulator of plasma iron concentration and distribution in tissues. |
| rs9366637 | The gene polymorphism is associated with altered blood ferritin levels and increased susceptibility to coronary heart disease. |
| rs1880669 | Single nucleotide polymorphisms in genes associated with serum iron and ferritin levels. |
| rs772908 | Regulates the interaction between dietary heme iron intake and the risk of developing type 2 diabetes. |
| rs12711924 | Regulates the interaction between dietary heme iron intake and the risk of developing type 2 diabetes. |
| rs1800562 | Polymorphisms associated with disease risk Haemochromatosis is an inherited disease that causes the body to absorb too much iron, leading to iron deposition in the body and organ damage. |
| rs1799945 | Polymorphisms associated with disease risk Haemochromatosis is an inherited disease that causes the body to absorb too much iron, leading to iron deposition in the body and organ damage. |
| rs4880 | Polymorphism of antioxidant enzymes as risk factors for complications, leads to increased oxidative stress. Affects the level of selenium in serum. |
| rs13194491 | One of several genes associated with iron deficiency anaemia. |
| rs7596205 | Iron-related gene breakage and Parkinson's disease. |
| rs7385804 | Genetic variation associated with iron overload, chronic anaemia and motor neurone disease. |
| rs2698530 | Genetic loci associated with iron deficiency. |
| rs3811647 | Genetic determinants of body iron stores and risk of type 2 diabetes. |
| rs5756504 | Gene associated with effects on serum iron concentration and red blood cell parameters in humans. |
| rs1123110 | Breakdown affects the association between dietary haem iron intake and risk of developing type 2 diabetes. |
| rs2111833 | A polymorphism of the transmembrane serine protease gene is associated with iron deficiency. |
| rs1799852 | A gene with a 40% effect on genetic variation in transferrin levels. Transferrin is the main iron transfer protein in plasma. |
| rs5756506 | A gene associated with serum ferritin levels and other variations in haematological traits. |
| rs17342717 | A common variant of the TFR2 gene involved in the physiological regulation of serum iron levels. |
| rs4820268 | A common variant of the TFR2 gene involved in the physiological regulation of serum iron levels and with an increased risk of iron deficiency anaemia. |
| rs2071302 | |
| rs9859260 | |
| rs11915082 | |
| rs11717368 | |
| rs9619658 | |
| rs228916 | |
| rs2246092 | |
| rs4140589 | |
| rs62625346 | |
| rs1801274 | |
| rs8177271 | |
| rs2075672 | |
| rs1165196 | |
| rs1185567 | |
| rs2762353 | |
| rs8177191 | |
| rs10047462 | |
| rs1408272 | |
| rs4516970 | |
| rs1457451 | |
| rs236918 | |
| rs2052550 | |
| rs973968 | |
| rs29880 | |
| rs2231164 | |
| rs13120400 | |
| rs1481012 | |
| rs4148155 | |
| rs4148152 | |
| rs3114018 | |
| rs2622604 | |
| rs72552713 | |
| rs2231142 | |
| rs3116448 | |
| rs2239484 | |
| rs2071594 | |
| rs13072552 | |
| rs960748 | |
| rs10455 | |
| rs149411 | |
About The Author
Li Dali
Li Dali, a National Foundation for Outstanding Youth Fund recipient, is a researcher at the School of Life Sciences in East China Normal University. He earned his PhD in genetics from Hunan Normal University in 2007 and conducted collaborative research at Texas A&M University during his doctoral studies. Li Dali and his team have optimized and innovated gene editing technology, leading to the establishment of a world-class system for constructing gene editing disease models. We recommend that anyone who has been diagnosed with autism undergo genetic testing. Unfortunately,... Lactose intolerance is a condition characterized by difficulty digesting lactose, a sugar present... Cyclin B1 serves as a regulatory protein pivotal in the process of mitosis. It forms complexes with...
