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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:
| rs4880 | Polymorphism of antioxidant enzymes as risk factors for complications, leads to increased oxidative stress. Affects the level of selenium in serum. |
| rs10455 | |
| rs29880 | |
| rs149411 | |
| rs228916 | |
| rs236918 | |
| rs772908 | Regulates the interaction between dietary heme iron intake and the risk of developing type 2 diabetes. |
| rs855791 | Variant in transferrin genes as potential risk markers for iron deficiency anaemia. Affects haemoglobin A1(C) levels through glycaemic and non-glycaemic pathways. |
| rs960748 | |
| rs973968 | |
| rs1049296 | Variants in iron metabolism genes predict higher blood lead levels in children. |
| rs1123110 | Breakdown affects the association between dietary haem iron intake and risk of developing type 2 diabetes. |
| rs1165196 | |
| rs1185567 | |
| rs1408272 | |
| rs1457451 | |
| rs1481012 | |
| rs1799852 | A gene with a 40% effect on genetic variation in transferrin levels. Transferrin is the main iron transfer protein in plasma. |
| 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. |
| 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. |
| rs1801274 | |
| rs1880669 | Single nucleotide polymorphisms in genes associated with serum iron and ferritin levels. |
| rs2052550 | |
| rs2071302 | |
| rs2071594 | |
| rs2075672 | |
| rs2111833 | A polymorphism of the transmembrane serine protease gene is associated with iron deficiency. |
| rs2231142 | |
| rs2231164 | |
| 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. |
| rs2239484 | |
| rs2246092 | |
| 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. |
| rs2622604 | |
| rs2698530 | Genetic loci associated with iron deficiency. |
| rs2762353 | |
| rs3114018 | |
| rs3116448 | |
| rs3811647 | Genetic determinants of body iron stores and risk of type 2 diabetes. |
| rs4140589 | |
| rs4148152 | |
| rs4148155 | |
| rs4516970 | |
| 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. |
| rs5756504 | Gene associated with effects on serum iron concentration and red blood cell parameters in humans. |
| rs5756506 | A gene associated with serum ferritin levels and other variations in haematological traits. |
| rs7385804 | Genetic variation associated with iron overload, chronic anaemia and motor neurone disease. |
| rs7596205 | Iron-related gene breakage and Parkinson's disease. |
| rs8177191 | |
| rs8177271 | |
| rs9366637 | The gene polymorphism is associated with altered blood ferritin levels and increased susceptibility to coronary heart disease. |
| rs9619658 | |
| rs9859260 | |
| rs10047462 | |
| rs11717368 | |
| rs11915082 | |
| rs12711924 | Regulates the interaction between dietary heme iron intake and the risk of developing type 2 diabetes. |
| rs13072552 | |
| rs13120400 | |
| rs13194491 | One of several genes associated with iron deficiency anaemia. |
| rs17342717 | A common variant of the TFR2 gene involved in the physiological regulation of serum iron levels. |
| rs62625346 | |
| rs72552713 | |