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Abnormal circulating transferrin concentration

MedGen UID:
1694121
•Concept ID:
C5139308
•
Finding
Synonym: Abnormal circulating transferrin level
 
HPO: HP:0032385

Definition

Any deviation from the normal concentration of transferrin in the blood circulation. [from HPO]

Conditions with this feature

Hemochromatosis type 5
MedGen UID:
341982
•Concept ID:
C1851316
•
Disease or Syndrome
A rare disorder of iron metabolism and transport characterised by elevated serum ferritin levels, increased serum iron, increased transferrin saturation and heavy iron deposition in hepatocytes. Iron deposition has also been indicated in heart and bone marrow, while haematological examination of peripheral blood shows no abnormalities.
See: Condition Record
Hemochromatosis type 5

Recent clinical studies

Etiology

Marked Influence of Adiposity on Laboratory Biomarkers in a Healthy Cohort of Children and Adolescents.
Higgins V, Omidi A, Tahmasebi H, Asgari S, Gordanifar K, Nieuwesteeg M, Adeli K
J Clin Endocrinol Metab 2020 Apr 1;105(4):e1781-97. doi: 10.1210/clinem/dgz161. PMID: 31845996Free PMC Article
The correlation between the concentration of hepcidin in serum and the occurrence of insulin resistance and hyperandrogenemia in women with polycystic ovary syndrome.
Pluta D, Franik G, Blukacz Ł, Kowalczyk K, Witkowska A, Wysocka M, Madej P
Eur Rev Med Pharmacol Sci 2018 Nov;22(21):7379-7384. doi: 10.26355/eurrev_201811_16276. PMID: 30468484
Protein-losing enteropathy after fontan operation: investigations into possible pathophysiologic mechanisms.
Ostrow AM, Freeze H, Rychik J
Ann Thorac Surg 2006 Aug;82(2):695-700. doi: 10.1016/j.athoracsur.2006.02.048. PMID: 16863787
Relationships between the copper and iron systems in hemodialysis patients and variables affecting these systems.
Kirschbaum B
Biol Trace Elem Res 2000 Oct;77(1):13-24. doi: 10.1385/BTER:77:1:13. PMID: 11097467
Serum levels of tumor necrosis factor-alpha, interleukin-1, and interferon-gamma in beta(o)-thalassemia/HbE and their clinical significance.
Wanachiwanawin W, Wiener E, Siripanyaphinyo U, Chinprasertsuk S, Mawas F, Fucharoen S, Wickramasinghe SN, Pootrakul P, Visudhiphan S
J Interferon Cytokine Res 1999 Feb;19(2):105-11. doi: 10.1089/107999099314243. PMID: 10090395

Diagnosis

Marked Influence of Adiposity on Laboratory Biomarkers in a Healthy Cohort of Children and Adolescents.
Higgins V, Omidi A, Tahmasebi H, Asgari S, Gordanifar K, Nieuwesteeg M, Adeli K
J Clin Endocrinol Metab 2020 Apr 1;105(4):e1781-97. doi: 10.1210/clinem/dgz161. PMID: 31845996Free PMC Article
Protein-losing enteropathy after fontan operation: investigations into possible pathophysiologic mechanisms.
Ostrow AM, Freeze H, Rychik J
Ann Thorac Surg 2006 Aug;82(2):695-700. doi: 10.1016/j.athoracsur.2006.02.048. PMID: 16863787
Serum levels of tumor necrosis factor-alpha, interleukin-1, and interferon-gamma in beta(o)-thalassemia/HbE and their clinical significance.
Wanachiwanawin W, Wiener E, Siripanyaphinyo U, Chinprasertsuk S, Mawas F, Fucharoen S, Wickramasinghe SN, Pootrakul P, Visudhiphan S
J Interferon Cytokine Res 1999 Feb;19(2):105-11. doi: 10.1089/107999099314243. PMID: 10090395
Serum transferrin receptor for the detection of iron deficiency in pregnancy.
Carriaga MT, Skikne BS, Finley B, Cutler B, Cook JD
Am J Clin Nutr 1991 Dec;54(6):1077-81. doi: 10.1093/ajcn/54.6.1077. PMID: 1957824
Hallervorden-Spatz syndrome and brain iron metabolism.
Swaiman KF
Arch Neurol 1991 Dec;48(12):1285-93. doi: 10.1001/archneur.1991.00530240091029. PMID: 1845035

Therapy

Protein-losing enteropathy after fontan operation: investigations into possible pathophysiologic mechanisms.
Ostrow AM, Freeze H, Rychik J
Ann Thorac Surg 2006 Aug;82(2):695-700. doi: 10.1016/j.athoracsur.2006.02.048. PMID: 16863787
Non-transferrin-bound iron and hepatic dysfunction in African dietary iron overload.
McNamara L, MacPhail AP, Mandishona E, Bloom P, Paterson AC, Rouault TA, Gordeuk VR
J Gastroenterol Hepatol 1999 Feb;14(2):126-32. doi: 10.1046/j.1440-1746.1999.01830.x. PMID: 10029292
Defective iron supply for erythropoiesis and adequate endogenous erythropoietin production in the anemia associated with systemic-onset juvenile chronic arthritis.
Cazzola M, Ponchio L, de Benedetti F, Ravelli A, Rosti V, Beguin Y, Invernizzi R, Barosi G, Martini A
Blood 1996 Jun 1;87(11):4824-30. PMID: 8639855
Hallervorden-Spatz syndrome and brain iron metabolism.
Swaiman KF
Arch Neurol 1991 Dec;48(12):1285-93. doi: 10.1001/archneur.1991.00530240091029. PMID: 1845035
Acute anaphylaxis associated with serum complement depletion.
Tannenbaum H, Ruddy S, Schur PH
J Allergy Clin Immunol 1975 Sep;56(3):226-34. doi: 10.1016/0091-6749(75)90094-9. PMID: 50336

Prognosis

Marked Influence of Adiposity on Laboratory Biomarkers in a Healthy Cohort of Children and Adolescents.
Higgins V, Omidi A, Tahmasebi H, Asgari S, Gordanifar K, Nieuwesteeg M, Adeli K
J Clin Endocrinol Metab 2020 Apr 1;105(4):e1781-97. doi: 10.1210/clinem/dgz161. PMID: 31845996Free PMC Article
Body iron stores and risk of type 2 diabetes: results from the European Prospective Investigation into Cancer and Nutrition (EPIC)-Potsdam study.
Montonen J, Boeing H, Steffen A, Lehmann R, Fritsche A, Joost HG, Schulze MB, Pischon T
Diabetologia 2012 Oct;55(10):2613-2621. Epub 2012 Jul 1 doi: 10.1007/s00125-012-2633-y. PMID: 22752055Free PMC Article
Defective iron supply for erythropoiesis and adequate endogenous erythropoietin production in the anemia associated with systemic-onset juvenile chronic arthritis.
Cazzola M, Ponchio L, de Benedetti F, Ravelli A, Rosti V, Beguin Y, Invernizzi R, Barosi G, Martini A
Blood 1996 Jun 1;87(11):4824-30. PMID: 8639855

Clinical prediction guides

Marked Influence of Adiposity on Laboratory Biomarkers in a Healthy Cohort of Children and Adolescents.
Higgins V, Omidi A, Tahmasebi H, Asgari S, Gordanifar K, Nieuwesteeg M, Adeli K
J Clin Endocrinol Metab 2020 Apr 1;105(4):e1781-97. doi: 10.1210/clinem/dgz161. PMID: 31845996Free PMC Article
Interrelationships between circulating gastrin and iron status in mice and humans.
Kovac S, Smith K, Anderson GJ, Burgess JR, Shulkes A, Baldwin GS
Am J Physiol Gastrointest Liver Physiol 2008 Oct;295(4):G855-61. Epub 2008 Aug 28 doi: 10.1152/ajpgi.90359.2008. PMID: 18755804Free PMC Article
Relationships between the copper and iron systems in hemodialysis patients and variables affecting these systems.
Kirschbaum B
Biol Trace Elem Res 2000 Oct;77(1):13-24. doi: 10.1385/BTER:77:1:13. PMID: 11097467
Defective iron supply for erythropoiesis and adequate endogenous erythropoietin production in the anemia associated with systemic-onset juvenile chronic arthritis.
Cazzola M, Ponchio L, de Benedetti F, Ravelli A, Rosti V, Beguin Y, Invernizzi R, Barosi G, Martini A
Blood 1996 Jun 1;87(11):4824-30. PMID: 8639855
Ferritinaemia in leukaemia and Hodgkin's disease.
Jones PA, Miller FM, Worwood M, Jacobs A
Br J Cancer 1973 Mar;27(3):212-7. doi: 10.1038/bjc.1973.26. PMID: 4511989Free PMC Article

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