Haemochromatosis type 3

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Haemochromatosis type 3
Classification and external resources
ICD-10 E83.1
OMIM 604250
MeSH C537248
Orphanet 225123

Haemochromatosis type 3 is a type of Iron overload disorder associated with deficiencies in transferrin receptor 2. It exhibits an autosomal recessive inheritance pattern.[1][2][3]

References[edit]

  1. ^ 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. PMID 11313241. doi:10.1182/blood.V97.9.2555. 
  2. ^ 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. PMID 12547237. doi:10.1006/bcmd.2002.0585. 
  3. ^ 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. PMID 15737887. doi:10.1016/j.beha.2004.09.004.