Haemochromatosis type 3: Difference between revisions
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| name = Haemochromatosis type 3 |
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'''Haemochromatosis type 3''' is a type of [[Iron overload disorder]] associated with deficiencies in [[transferrin receptor 2]]. It exhibits an [[Autosomal Recessive|autosomal recessive]] inheritance pattern.<ref name="pmid11313241">{{cite journal |vauthors=Roetto A, Totaro A, Piperno A, etal |title=New mutations inactivating transferrin receptor 2 in hemochromatosis type 3 |journal=Blood |volume=97 |issue=9 |pages=2555–60 |date=May 2001 |pmid=11313241 |doi= 10.1182/blood.V97.9.2555|url=http://www.bloodjournal.org/cgi/pmidlookup?view=long&pmid=11313241}}</ref><ref name="pmid12547237">{{cite journal |vauthors=Roetto A, Daraio F, Alberti F, etal |title=Hemochromatosis due to mutations in transferrin receptor 2 |journal=Blood Cells Mol. Dis. |volume=29 |issue=3 |pages=465–70 |year=2002 |pmid=12547237 |doi= 10.1006/bcmd.2002.0585|url=http://linkinghub.elsevier.com/retrieve/pii/S1079979602905851}}</ref><ref name="pmid15737887">{{cite journal |vauthors=Roetto A, Camaschella C |title=New insights into iron homeostasis through the study of non-HFE hereditary haemochromatosis |journal=Best Pract Res Clin Haematol |volume=18 |issue=2 |pages=235–50 |date=June 2005 |pmid=15737887 |doi=10.1016/j.beha.2004.09.004 |url=http://linkinghub.elsevier.com/retrieve/pii/S1521-6926(04)00096-9}}</ref> |
'''Haemochromatosis type 3''' is a type of [[Iron overload disorder]] associated with deficiencies in [[transferrin receptor 2]]. It exhibits an [[Autosomal Recessive|autosomal recessive]] inheritance pattern.<ref name="pmid11313241">{{cite journal |vauthors=Roetto A, Totaro A, Piperno A, etal |title=New mutations inactivating transferrin receptor 2 in hemochromatosis type 3 |journal=Blood |volume=97 |issue=9 |pages=2555–60 |date=May 2001 |pmid=11313241 |doi= 10.1182/blood.V97.9.2555|url=http://www.bloodjournal.org/cgi/pmidlookup?view=long&pmid=11313241}}</ref><ref name="pmid12547237">{{cite journal |vauthors=Roetto A, Daraio F, Alberti F, etal |title=Hemochromatosis due to mutations in transferrin receptor 2 |journal=Blood Cells Mol. Dis. |volume=29 |issue=3 |pages=465–70 |year=2002 |pmid=12547237 |doi= 10.1006/bcmd.2002.0585|url=http://linkinghub.elsevier.com/retrieve/pii/S1079979602905851}}</ref><ref name="pmid15737887">{{cite journal |vauthors=Roetto A, Camaschella C |title=New insights into iron homeostasis through the study of non-HFE hereditary haemochromatosis |journal=Best Pract Res Clin Haematol |volume=18 |issue=2 |pages=235–50 |date=June 2005 |pmid=15737887 |doi=10.1016/j.beha.2004.09.004 |url=http://linkinghub.elsevier.com/retrieve/pii/S1521-6926(04)00096-9}}</ref> |
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==References== |
==References== |
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{{Reflist}} |
{{Reflist}} |
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==External links== |
== External links == |
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{{Medical resources |
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| DiseasesDB = |
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| ICD10 = E83.1 |
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| OMIM = 604250 |
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| MeshID = C537248 |
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| Orphanet = 225123 |
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{{Inborn errors of metal metabolism}} |
{{Inborn errors of metal metabolism}} |
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Revision as of 10:55, 24 May 2018
| Haemochromatosis type 3 |
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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
- ^ 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.
- ^ 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.
- ^ 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.
External links
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