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Genetic haemochromatosis

iron

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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:

rs1049296Variants in iron metabolism genes predict higher blood lead levels in children.
rs855791Variant in transferrin genes as potential risk markers for iron deficiency anaemia. Affects haemoglobin A1(C) levels through glycaemic and non-glycaemic pathways.
rs2235321The 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.
rs2413450The 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.
rs9366637The gene polymorphism is associated with altered blood ferritin levels and increased susceptibility to coronary heart disease.
rs1880669Single nucleotide polymorphisms in genes associated with serum iron and ferritin levels.
rs772908Regulates the interaction between dietary heme iron intake and the risk of developing type 2 diabetes.
rs12711924Regulates the interaction between dietary heme iron intake and the risk of developing type 2 diabetes.
rs1800562Polymorphisms 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.
rs1799945Polymorphisms 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.
rs4880Polymorphism of antioxidant enzymes as risk factors for complications, leads to increased oxidative stress. Affects the level of selenium in serum.
rs13194491One of several genes associated with iron deficiency anaemia.
rs7596205Iron-related gene breakage and Parkinson's disease.
rs7385804Genetic variation associated with iron overload, chronic anaemia and motor neurone disease.
rs2698530Genetic loci associated with iron deficiency.
rs3811647Genetic determinants of body iron stores and risk of type 2 diabetes.
rs5756504Gene associated with effects on serum iron concentration and red blood cell parameters in humans.
rs1123110Breakdown affects the association between dietary haem iron intake and risk of developing type 2 diabetes.
rs2111833A polymorphism of the transmembrane serine protease gene is associated with iron deficiency.
rs1799852A gene with a 40% effect on genetic variation in transferrin levels. Transferrin is the main iron transfer protein in plasma.
rs5756506A gene associated with serum ferritin levels and other variations in haematological traits.
rs17342717A common variant of the TFR2 gene involved in the physiological regulation of serum iron levels.
rs4820268A 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
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