JCHOR
Journal of Current Hematology & Oncology Research

The Journal of Current Hematology & Oncology Research regularly publishes internationally qualified research in hematology and oncology within the current scholarly knowledge.

ISSN: Active
eISSN: 2980-0854
Creative Commons CC BY-NC-ND 4.0 International License.
EndNote Style

Online Manuscript System

Index
Case Report
Hereditary hyperferritinemia cataract syndrome with iron deficiency : a case report
Abstract
Hereditary hyperferritinemia-cataract syndrome (HHCS) is a rare disease characterized by high serum ferritin levels, congenital bilateral cataracts, and the absence of tissue iron overload. HHCS is a rare disease characterized by high serum ferritin levels, congenital bilateral cataracts, and the absence of tissue iron overload. In this case report, we aimed to present a young female patient with a history of cataracts in herself and her family members. Our patient had the dilemma of iron deficiency anemia and hyperferritinemia. As in our patient, patients with HHCS apply to many outpatient clinics and have difficulty in diagnosis. For this reason, we prepared our case to raise awareness.

Keywords : Cataract, hyperferritinemia, iron

Download Article


1. Volkmann M, Richter R, Herrmann T, et al. Hereditary hyperferritinaemia-cataract syndrome (HHCS)-an underestimated condition: ferritin lightchain variant spectrum in German families. Clin Chem Lab Med(CCLM) 2019;57(12):1837-1845.
2. Cao W, McMahon M, Wang B, O’Connor R, Clarkson M. A case reportof spontaneous mutation (C33>U) in the iron-responsive element ofL-ferritin causing hyperferritinemia-cataract syndrome. Blood CellsMolec Dis. 2010;44(1):22-27.
3. Craig JE, Clark JB, McLeod JL, et al. Hereditary hyperferritinemia-cataract syndrome: prevalence, lens morphology, spectrum of mutations,and clinical presentations. Archives Ophthalmol. 2003;121(12):1753-1761.
Article available in :
Volume 1, Issue 4, 2023
Page : 107-108
https://doi.org/10.51271/JCHOR-0024
Article Information
Received : 16 Kas 2023
Accepted : 25 Kas 2023
Published : 30 Kas 2023
Corresponding Author :

Serhat Çelik: Division of Hematology, Department of Internal Medicine, Faculty of Medicine Ankara University

[email protected]
Citation : Abedi AH, Çelik S, Özçelik Yılmaz ZD, Güven ZT, Kaynar L. Hereditary hyperferritinemia cataract syndrome with iron deficiency : a case report. J Curr Hematol Oncol Res. 2023;1(4):107-108.

Read: 3208
Download : 2938
Cited: 0
_Footer