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Abnormal transferrin saturation

MedGen UID:
868028
Concept ID:
C4022419
Finding
HPO: HP:0040135

Definition

Any abnormality in the serum transferrin saturation, which is calculated by dividing the serum iron level by total iron-binding capacity. [from HPO]

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

Moisidis-Tesch CM, Shulman LP
Adv Ther 2022 Jun;39(6):2438-2451. Epub 2022 Apr 30 doi: 10.1007/s12325-022-02157-7. PMID: 35488139
Smith A, Baumgartner K, Bositis C
Am Fam Physician 2019 Dec 15;100(12):759-770. PMID: 31845776
Phatak PD, Cappuccio JD
Blood Rev 1994 Dec;8(4):193-8. doi: 10.1016/0268-960x(94)90107-4. PMID: 7888827

Recent clinical studies

Etiology

Galan P, Etard JF, Borel E, Debenaze C, Hercberg S
Int J Vitam Nutr Res 1989;59(2):214-8. PMID: 2777506

Diagnosis

Galan P, Etard JF, Borel E, Debenaze C, Hercberg S
Int J Vitam Nutr Res 1989;59(2):214-8. PMID: 2777506

Therapy

Galan P, Etard JF, Borel E, Debenaze C, Hercberg S
Int J Vitam Nutr Res 1989;59(2):214-8. PMID: 2777506

Prognosis

Galan P, Etard JF, Borel E, Debenaze C, Hercberg S
Int J Vitam Nutr Res 1989;59(2):214-8. PMID: 2777506

Clinical prediction guides

Galan P, Etard JF, Borel E, Debenaze C, Hercberg S
Int J Vitam Nutr Res 1989;59(2):214-8. PMID: 2777506

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