Severe iron overload with a novel aminolevulinate synthase mutation and hepatitis C infection. A case report

Pauline Lee; Lawrence Rice; John J. McCarthy; Ernest Beutler

doi:10.1016/j.bcmd.2008.08.001

Severe iron overload with a novel aminolevulinate synthase mutation and hepatitis C infection. A case report

Pauline Lee, Lawrence Rice, John J. McCarthy, Ernest Beutler

Research output: Contribution to journal › Article › peer-review

8 Scopus citations

Abstract

A 55 year old man with a history of chronic hepatitis C infection was found to have severe hemochromatosis: hepatic cirrhosis, cardiomyopathy, arrhythmia, hypogonadism, diabetes and bronzed skin color. After 50 phlebotomies, he underwent a combined heart and liver transplant. Genetic analyses identified a novel mutation in the iron responsive element of the ALAS2 gene. No mutations were found in other genes associated with adult or juvenile hemochromatosis including HFE, transferrin receptor-2 (TFR2), ferroportin (SLC40A1), hepcidin (HAMP) and hemojuvelin (HJV). We suggest that the ALAS2 mutation together with chronic hepatitis C infection may have caused the severe iron overload phenotype.

Original language	English (US)
Pages (from-to)	1-4
Number of pages	4
Journal	Blood Cells, Molecules, and Diseases
Volume	42
Issue number	1
DOIs	https://doi.org/10.1016/j.bcmd.2008.08.001
State	Published - Jan 2009

Keywords

ALAS2
Hemochromatosis
Hepatitis C
Iron overload
Iron responsive element
Liver transplant

ASJC Scopus subject areas

Molecular Biology
Molecular Medicine
Hematology
Cell Biology

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10.1016/j.bcmd.2008.08.001

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title = "Severe iron overload with a novel aminolevulinate synthase mutation and hepatitis C infection. A case report",

abstract = "A 55 year old man with a history of chronic hepatitis C infection was found to have severe hemochromatosis: hepatic cirrhosis, cardiomyopathy, arrhythmia, hypogonadism, diabetes and bronzed skin color. After 50 phlebotomies, he underwent a combined heart and liver transplant. Genetic analyses identified a novel mutation in the iron responsive element of the ALAS2 gene. No mutations were found in other genes associated with adult or juvenile hemochromatosis including HFE, transferrin receptor-2 (TFR2), ferroportin (SLC40A1), hepcidin (HAMP) and hemojuvelin (HJV). We suggest that the ALAS2 mutation together with chronic hepatitis C infection may have caused the severe iron overload phenotype.",

keywords = "ALAS2, Hemochromatosis, Hepatitis C, Iron overload, Iron responsive element, Liver transplant",

author = "Pauline Lee and Lawrence Rice and McCarthy, {John J.} and Ernest Beutler",

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AU - Beutler, Ernest

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N2 - A 55 year old man with a history of chronic hepatitis C infection was found to have severe hemochromatosis: hepatic cirrhosis, cardiomyopathy, arrhythmia, hypogonadism, diabetes and bronzed skin color. After 50 phlebotomies, he underwent a combined heart and liver transplant. Genetic analyses identified a novel mutation in the iron responsive element of the ALAS2 gene. No mutations were found in other genes associated with adult or juvenile hemochromatosis including HFE, transferrin receptor-2 (TFR2), ferroportin (SLC40A1), hepcidin (HAMP) and hemojuvelin (HJV). We suggest that the ALAS2 mutation together with chronic hepatitis C infection may have caused the severe iron overload phenotype.

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KW - Iron responsive element

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Severe iron overload with a novel aminolevulinate synthase mutation and hepatitis C infection. A case report

Abstract

Keywords

ASJC Scopus subject areas

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