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Notes in 05_Hereditary Haemo

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Published 02/10/2024 Treatment of Hereditary Spherocytosis {{c1::Folic acid}} {{c1::Blood transfusion}} {{c1::Splenectomy if anaemia is very severe}}
Published 02/10/2024 {{c1::Hereditary Haemochromatosis}} is an {{c2::autosomal recessive genetic disorder characterized by excessive iron absorption due to a defective hep…
Published 02/10/2024 {{c1::Hepcidin}} is a hormone that physiologically controls iron absorption from diet, a defect leads to iron overload
Published 02/10/2024 Genetics of {{c2::Hereditary Haemochromatosis}} Inheritance: {{c1::autosomal recessive}} Mutation: {{c1::HFE gene mutation on chromosome 6}} Protein a…
Published 02/10/2024 Presentation of {{c2::Hereditary Haemochromatosis}} {{c1::Usually 30-40 years old males}} {{c1::Early symptoms: fatigue, abdominal pain, arthralgia, e…
Published 02/10/2024 Bloods of Hereditary Haemochromatosis show {{c1::high serum iron}}, {{c1::high transferrin saturation}}, and {{c1::elevated LFTs (AST/ALT)}}
Published 02/10/2024 Management of Hereditary Haemochromatosis {{c1::Avoid iron-rich diet and reduce alcohol}} {{c1::Regular venesection}} {{c1::Iron chelation therapy if …
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