Abstract | BACKGROUND: METHODS: RESULTS: The subject's transferrin saturation was 100% and his serum ferritin was 2,960 ng/ml. An MRI scan revealed diffusely decreased T(2) signals of the heart, liver and pancreas. Transjugular right endomyocardial and liver biopsy specimens revealed marked iron deposition in cardiac myocytes and hepatocytes, and cirrhosis. He died of progressive cardiomyopathy. He was hemizygous for ALAS2 R452S (exon 9; c.1354C-->A) and heterozygous for SLC40A1 R561G (exon 8; c.1681A-->G). He did not have coding region mutations in HFE, TFR2, HAMP or HJV. CONCLUSIONS: ALAS2 R452S largely explains this patient's microcytic anemia and multi-organ iron overload and dysfunction. SLC40A1 R561G may have increased his iron absorption and overload further. Acquired factors, especially cocaine use and hepatitis C, may have contributed to his clinical phenotype.
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Authors | Norman L Sussman, Pauline L Lee, Andrew M Dries, Mary R Schwartz, James C Barton |
Journal | Acta haematologica
(Acta Haematol)
Vol. 120
Issue 3
Pg. 168-73
( 2008)
ISSN: 1421-9662 [Electronic] Switzerland |
PMID | 19066423
(Publication Type: Case Reports, Journal Article, Research Support, N.I.H., Extramural, Research Support, Non-U.S. Gov't)
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Copyright | Copyright 2008 S. Karger AG, Basel. |
Chemical References |
- Cation Transport Proteins
- metal transporting protein 1
- 5-Aminolevulinate Synthetase
- ALAS2 protein, human
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Topics |
- 5-Aminolevulinate Synthetase
(genetics, metabolism)
- Black or African American
- Amino Acid Substitution
- Anemia, Sideroblastic
(genetics, metabolism, pathology)
- Cardiomyopathies
(genetics, metabolism, pathology)
- Cation Transport Proteins
(genetics, metabolism)
- Genetic Diseases, X-Linked
(genetics, metabolism, pathology)
- Hepatocytes
(metabolism, pathology)
- Humans
- Iron Overload
(genetics, metabolism, pathology)
- Liver Cirrhosis
(genetics, metabolism, pathology)
- Male
- Middle Aged
- Mutation, Missense
- Myocytes, Cardiac
(metabolism, pathology)
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