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Iron Overload in an HFE Heterozygous Carrier: A Case Report and Literature Review.

Abstract：

:Hereditary hemochromatosis (HH) is an autosomal recessive disorder of iron metabolism characterized by increased iron absorption and tissue deposition. Three loss-of-function mutations in the hemochromatosis gene (HFE), namely, C282Y (c.845G>A), H63D (c.187C>G), and S65C (c.193A>T), account for the vast majority of HH cases. These mutations cause alterations in HFE membrane expression, structure, and/or activity, leading to dysregulation of iron absorption. It is well established that the phenotypic expression of HFE mutations varies markedly. Herein, we describe a 64-year-old Caucasian woman with a reported history of hemochromatosis. The father of the patient had died of complications due to iron overload. Testing of HFE codon C282Y, H63D, and S65C mutations showed heterozygous C282Y. The patient had significantly elevated transferrin saturation (TS) and serum ferritin (SF) levels. Her liver function test results showed elevated alanine transaminase (ALT) and aspartate aminotransferase (AST) levels. The patient has been treated with regular phlebotomy to prevent the clinical manifestations of hemochromatosis.

journal_name

Lab Med

journal_title

Laboratory medicine

authors

Turbiville D,Du X,Yo J,Jana BR,Dong J

doi

10.1093/labmed/lmy065

subject

Has Abstract

pub_date

2019-04-08 00:00:00

pages

212-217

issue

2

eissn

0007-5027

issn

1943-7730

pii

5136424

journal_volume

50

pub_type

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