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Decreased transferrin saturation

MedGen UID:
760149
Concept ID:
C0919785
Finding
HPO: HP:0012464

Definition

A below normal level of saturation of serum transferrin with iron. [from HPO]

Term Hierarchy

Conditions with this feature

Hereditary hyperferritinemia with congenital cataracts
MedGen UID:
318812
Concept ID:
C1833213
Disease or Syndrome
Hyperferritinemia-cataract syndrome is a disorder characterized by an excess of an iron storage protein called ferritin in the blood (hyperferritinemia) and tissues of the body. A buildup of this protein begins early in life, leading to clouding of the lenses of the eyes (cataracts). In affected individuals, cataracts usually develop in infancy, rather than after age 60 as typically occurs in the general population. Cataracts that are not removed surgically cause progressive dimming and blurriness of vision because the clouded lenses reduce and distort incoming light.\n\nAlthough the hyperferritinemia in this disorder does not usually cause any health problems other than cataracts, the elevated ferritin levels in the blood can be mistaken for a sign of certain liver disorders. These conditions result in excess iron in the body and may be treated by blood-drawing. However, individuals with hyperferritinemia-cataract syndrome do not have an excess of iron, and with repeated blood draws will develop reduced iron levels leading to a low number of red blood cells (anemia). Therefore, correct diagnosis of hyperferritinemia-cataract syndrome is important to avoid unnecessary treatments or invasive test procedures such as liver biopsies.

Professional guidelines

PubMed

Angelucci E, Muretto P, Lucarelli G, Ripalti M, Baronciani D, Erer B, Galimberti M, Annibali M, Giardini C, Gaziev D, Rapa S, Polchi P
Ann N Y Acad Sci 1998 Jun 30;850:288-93. doi: 10.1111/j.1749-6632.1998.tb10485.x. PMID: 9668550
Kooistra MP, van Es A, Struyvenberg A, Marx JJ
Br J Haematol 1991 Dec;79(4):634-9. doi: 10.1111/j.1365-2141.1991.tb08093.x. PMID: 1772785
Thea A, Canavese C, Mangiarotti G, Pacitti A, Salomone M, Calitri V, Fidelio T, Ragni R, Vercellone A
Ric Clin Lab 1986 Oct-Dec;16(4):517-22. doi: 10.1007/BF02886833. PMID: 3576049

Recent clinical studies

Etiology

Roy R, Kück M, Radziwolek L, Kerling A
Nutrients 2022 Oct 27;14(21) doi: 10.3390/nu14214511. PMID: 36364775Free PMC Article
Kim MJ, Mayr M, Pechula M, Steiger J, Dickenmann M
Transpl Int 2006 Jan;19(1):12-8. doi: 10.1111/j.1432-2277.2005.00190.x. PMID: 16359372
Arnason JA, Gudjónsson H, Freysdóttir J, Jónsdóttir I, Valdimarsson H
Gut 1992 Feb;33(2):194-7. doi: 10.1136/gut.33.2.194. PMID: 1541415Free PMC Article

Diagnosis

Roy R, Kück M, Radziwolek L, Kerling A
Nutrients 2022 Oct 27;14(21) doi: 10.3390/nu14214511. PMID: 36364775Free PMC Article
Ghio S, Fortuni F, Capettini AC, Scelsi L, Greco A, Vullo E, Raineri C, Guida S, Turco A, Gargiulo C, Oltrona Visconti L
Acta Cardiol 2021 Apr;76(2):162-167. Epub 2020 Jan 4 doi: 10.1080/00015385.2019.1694760. PMID: 31902301
Baldus M, Salopek S, Möller M, Schliesser J, Klooker P, Reddig J, Gansert U, Brass H
Nephrol Dial Transplant 1996 Mar;11(3):486-91. PMID: 8710158
Arnason JA, Gudjónsson H, Freysdóttir J, Jónsdóttir I, Valdimarsson H
Gut 1992 Feb;33(2):194-7. doi: 10.1136/gut.33.2.194. PMID: 1541415Free PMC Article
Klee GG, Fairbanks VF, Pierre RV, O'Sullivan MB
Am J Clin Pathol 1976 Nov;66(5):870-7. doi: 10.1093/ajcp/66.5.870. PMID: 983994

Therapy

Koury MJ, Agarwal R, Chertow GM, Eckardt KU, Fishbane S, Ganz T, Haase VH, Hanudel MR, Parfrey PS, Pergola PE, Roy-Chaudhury P, Tumlin JA, Anders R, Farag YMK, Luo W, Minga T, Solinsky C, Vargo DL, Winkelmayer WC
Am J Hematol 2022 Sep;97(9):1178-1188. Epub 2022 Jul 15 doi: 10.1002/ajh.26644. PMID: 35751858Free PMC Article
Robach P, Recalcati S, Girelli D, Gelfi C, Aachmann-Andersen NJ, Thomsen JJ, Norgaard AM, Alberghini A, Campostrini N, Castagna A, Viganò A, Santambrogio P, Kempf T, Wollert KC, Moutereau S, Lundby C, Cairo G
Blood 2009 Jun 25;113(26):6707-15. Epub 2009 Mar 4 doi: 10.1182/blood-2008-09-178095. PMID: 19264680
Kim MJ, Mayr M, Pechula M, Steiger J, Dickenmann M
Transpl Int 2006 Jan;19(1):12-8. doi: 10.1111/j.1432-2277.2005.00190.x. PMID: 16359372
Walsh DS, Pattanapanyasat K, Lamchiagdhase P, Siritongtaworn P, Thavichaigarn P, Jiarakul N, Chuntrasakul C, Komoltri C, Dheeradhada C, Pearce FC, Wiesmann WP, Webster HK
Br J Surg 1996 Jul;83(7):982-5. doi: 10.1002/bjs.1800830731. PMID: 8813793
Baldus M, Salopek S, Möller M, Schliesser J, Klooker P, Reddig J, Gansert U, Brass H
Nephrol Dial Transplant 1996 Mar;11(3):486-91. PMID: 8710158

Prognosis

Baldus M, Salopek S, Möller M, Schliesser J, Klooker P, Reddig J, Gansert U, Brass H
Nephrol Dial Transplant 1996 Mar;11(3):486-91. PMID: 8710158

Clinical prediction guides

Ghio S, Fortuni F, Capettini AC, Scelsi L, Greco A, Vullo E, Raineri C, Guida S, Turco A, Gargiulo C, Oltrona Visconti L
Acta Cardiol 2021 Apr;76(2):162-167. Epub 2020 Jan 4 doi: 10.1080/00015385.2019.1694760. PMID: 31902301
Robach P, Recalcati S, Girelli D, Gelfi C, Aachmann-Andersen NJ, Thomsen JJ, Norgaard AM, Alberghini A, Campostrini N, Castagna A, Viganò A, Santambrogio P, Kempf T, Wollert KC, Moutereau S, Lundby C, Cairo G
Blood 2009 Jun 25;113(26):6707-15. Epub 2009 Mar 4 doi: 10.1182/blood-2008-09-178095. PMID: 19264680
Walsh DS, Pattanapanyasat K, Lamchiagdhase P, Siritongtaworn P, Thavichaigarn P, Jiarakul N, Chuntrasakul C, Komoltri C, Dheeradhada C, Pearce FC, Wiesmann WP, Webster HK
Br J Surg 1996 Jul;83(7):982-5. doi: 10.1002/bjs.1800830731. PMID: 8813793
Baldus M, Salopek S, Möller M, Schliesser J, Klooker P, Reddig J, Gansert U, Brass H
Nephrol Dial Transplant 1996 Mar;11(3):486-91. PMID: 8710158
Klee GG, Fairbanks VF, Pierre RV, O'Sullivan MB
Am J Clin Pathol 1976 Nov;66(5):870-7. doi: 10.1093/ajcp/66.5.870. PMID: 983994

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