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Hereditary Hemochromatosis, Study notes of Molecular biology

Universitas Sumatera Utara (USU)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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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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