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Hereditary Hemochromatosis, Study notes of Molecular biology

Gangguan yang menyebabkan tubuh menyerap terlalu banyak zat besi dari makanan, yang disebabkan oleh adanya mutasi di gen HFE di kromosom 6.

Typology: Study notes

2018/2019

Uploaded on 04/14/2019

amalia93
amalia93 🇮🇩

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Hereditary
hemochromatosis type 1
(HFE Related)
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pf4
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Hereditary

hemochromatosis type 1

(HFE Related)

Definisi

• Gangguan yang menyebabkan tubuh

menyerap terlalu banyak zat besi dari

makanan, yang disebabkan oleh adanya

mutasi di gen HFE di kromosom 6.

Other names for this gene

  • (^) hemochromatosis
  • (^) hemochromatosis, genetic; GH
  • (^) Hemochromatosis, Hereditary; HH
  • Hereditary hemochromatosis protein
  • (^) HFE_HUMAN
  • (^) HLA-H antigen

P- arm

Q-arm

HH Tipe 3

  • (^) Gene : TFR 2
  • (^) Kromosom: 7 (7q22.1)
  • (^) Produk protein : Transferrin reseptor 2
  • (^) Fungsi : Membantu besi masuk ke sel hati (hepatosit)
  • (^) Manifestasi Klinis:
  • (^) Similiar to HFE hemochromatosis
    • (^) abnormal liver function,
    • (^) diabetes,
    • (^) hypogonadism,
    • (^) cardiomyopathy and arthritis Symptoms of hemochromatosis type 3 typically begin before 30-years- old HH Tipe 4 - (^) Gene : SLC40A - (^) Kromosom: 32 (2q32.2) - (^) Produk protein : ferroportin - (^) Fungsi : Membantu besi masuk ke sel hati (hepatosit) - (^) Manifestasi Klinis : - (^) typically present with low to normal transferrin saturation - (^) iron overload within macrophages, mainly from the liver, spleen and bone marrow. - (^) mild irondeficient anemia Symptoms of hemochromatosis type 4 can begin anytime from childhood to adulthood

Inheritance pattern

  • (^) Types 1, 2, and 3 hemochromatosis are inherited in an autosomal recessive pattern
  • (^) Type 4 hemochromatosis is distinguished by its autosomal dominant inheritance pattern

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