Hereditary Hyperferritinemia-Cataract Syndrome in 3 Generations of a Family in East Tennessee
Joint Authors
Lands, Ronald
Worth, Heidi A.
Marlette, Zachary
Aljadir, David
Source
Issue
Vol. 2020, Issue 2020 (31 Dec. 2020), pp.1-3, 3 p.
Publisher
Hindawi Publishing Corporation
Publication Date
2020-05-26
Country of Publication
Egypt
No. of Pages
3
Main Subjects
Abstract EN
Hereditary hyperferritinemia and cataracts syndrome (HHCS) without iron overload is a syndrome first identified less than 3 decades ago.
While investigators have dissected the gene where several responsible mutations reside, it remains a relatively unknown genetic disorder to clinicians.
The result is often an expensive, invasive evaluation for iron overload, followed by a well-intended prescription for a series of phlebotomies that delivers morbidity instead of benefit.
We present a father with an elevated ferritin and heterozygosity for H63D HFE mutation whose clinical course followed this path.
His treatment rendered him symptomatic from iron deficiency with no reduction in his ferritin.
On re-evaluation, a review of his past medical history clarified the cataract surgery noted in his record had occurred at a young age.
Furthermore, one of his daughters required cataract surgery as a teenager.
With this information, we strongly suspected HHCS.
His phlebotomies were discontinued, and within weeks, his iatrogenic iron deficiency resolved and his health returned to normal.
American Psychological Association (APA)
Worth, Heidi A.& Marlette, Zachary& Aljadir, David& Lands, Ronald. 2020. Hereditary Hyperferritinemia-Cataract Syndrome in 3 Generations of a Family in East Tennessee. Case Reports in Hematology،Vol. 2020, no. 2020, pp.1-3.
https://search.emarefa.net/detail/BIM-1147633
Modern Language Association (MLA)
Worth, Heidi A.…[et al.]. Hereditary Hyperferritinemia-Cataract Syndrome in 3 Generations of a Family in East Tennessee. Case Reports in Hematology No. 2020 (2020), pp.1-3.
https://search.emarefa.net/detail/BIM-1147633
American Medical Association (AMA)
Worth, Heidi A.& Marlette, Zachary& Aljadir, David& Lands, Ronald. Hereditary Hyperferritinemia-Cataract Syndrome in 3 Generations of a Family in East Tennessee. Case Reports in Hematology. 2020. Vol. 2020, no. 2020, pp.1-3.
https://search.emarefa.net/detail/BIM-1147633
Data Type
Journal Articles
Language
English
Notes
Includes bibliographical references
Record ID
BIM-1147633