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6 Οκτ 2024 · The symptoms of hemochromatosis typically appear in adulthood and may include fatigue, joint pain, and skin darkening, among others. Diagnosis is made through blood tests measuring iron levels and genetic testing.
5 Απρ 2018 · The most common form of haemochromatosis is due to homozygous mutations (specifically, the C282Y mutation) in HFE, which encodes hereditary haemochromatosis protein. Non- HFE forms of haemochromatosis due to mutations in HAMP, HJV or TFR2 are much rarer.
17 Ιουλ 2023 · Apply best practices when utilizing laboratory and other diagnostic testing to monitor disease progression in patients with hereditary hemochromatosis. Develop and implement interprofessional team processes to improve outcomes and prevent complications in patients with hereditary hemochromatosis.
19 Μαΐ 2022 · Hemochromatosis (HC) is a genetically heterogeneous disorder in which uncontrolled intestinal iron absorption may lead to progressive iron overload (IO) responsible for disabling and life-threatening complications such as arthritis, diabetes, heart failure, hepatic cirrhosis, and hepatocellular carcinoma.
21 Φεβ 2024 · Haemochromatosis is a genetic disorder causing a build-up of iron levels in the body over time. Common presenting features include fatigue and arthralgias. Elevated transferrin saturation is the phenotypic hallmark of the disorder, and diagnosis is confirmed by genetic testing.
5 Απρ 2018 · Diagnosis is noninvasive and includes clinical examination, assessment of plasma iron parameters, imaging and genetic testing. The mainstay therapy is phlebotomy, although iron chelation can be used in some patients.
6 Οκτ 2024 · Excess iron accumulates in critical organs, including the liver, pancreas, heart, joints, skin, and pituitary gland, leading to cellular dysfunction. The condition is typically diagnosed in middle age; women are often diagnosed later in life due to the iron loss associated with menstruation.
