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Haemochromatosis type 3

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Haemochromatosis type 3
Other namesTFR2-related hemochromatosis[1]
SpecialtyHematology

Haemochromatosis type 3 is a type of Iron overload disorder associated with deficiencies in transferrin receptor 2. It exhibits an autosomal recessive inheritance pattern.[2][3][4]

References

  1. ^ RESERVED, INSERM US14-- ALL RIGHTS. "Orphanet: Hemochromatosis type 3". www.orpha.net. Retrieved 8 June 2019.
  2. ^ Roetto A, Totaro A, Piperno A, et al. (May 2001). "New mutations inactivating transferrin receptor 2 in hemochromatosis type 3". Blood. 97 (9): 2555–60. doi:10.1182/blood.V97.9.2555. PMID 11313241.
  3. ^ Roetto A, Daraio F, Alberti F, et al. (2002). "Hemochromatosis due to mutations in transferrin receptor 2". Blood Cells Mol. Dis. 29 (3): 465–70. doi:10.1006/bcmd.2002.0585. PMID 12547237.
  4. ^ Roetto A, Camaschella C (June 2005). "New insights into iron homeostasis through the study of non-HFE hereditary haemochromatosis". Best Pract Res Clin Haematol. 18 (2): 235–50. doi:10.1016/j.beha.2004.09.004. PMID 15737887.
Classification
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Haemochromatosis type 3
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