Multi-organ iron overload in an African-American man with ALAS2 R452S and SLC40A1 R561G.

Sussman, Norman L; Lee, Pauline L; Dries, Andrew M; Schwartz, Mary R; Barton, James C

Sussman, Norman L; Lee, Pauline L; Dries, Andrew M; Schwartz, Mary R; Barton, James C.

Affiliation

Sussman NL; Department of Medicine, Baylor College of Medicine, Houston, Tex., USA.

Acta Haematol ; 120(3): 168-73, 2008.

Article in En | MEDLINE | ID: mdl-19066423

Subject(s)

5-Aminolevulinate Synthetase/genetics; Anemia, Sideroblastic/genetics; Black or African American; Cation Transport Proteins/genetics; Genetic Diseases, X-Linked/genetics; Iron Overload/genetics; Mutation, Missense; 5-Aminolevulinate Synthetase/metabolism; Amino Acid Substitution; Anemia, Sideroblastic/metabolism; Anemia, Sideroblastic/pathology; Cardiomyopathies/genetics; Cardiomyopathies/metabolism; Cardiomyopathies/pathology; Cation Transport Proteins/metabolism; Genetic Diseases, X-Linked/metabolism; Genetic Diseases, X-Linked/pathology; Hepatocytes/metabolism; Hepatocytes/pathology; Humans; Iron Overload/metabolism; Iron Overload/pathology; Liver Cirrhosis/genetics; Liver Cirrhosis/metabolism; Liver Cirrhosis/pathology; Male; Middle Aged; Myocytes, Cardiac/metabolism; Myocytes, Cardiac/pathology

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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Black or African American / Iron Overload / Mutation, Missense / Cation Transport Proteins / Genetic Diseases, X-Linked / 5-Aminolevulinate Synthetase / Anemia, Sideroblastic Limits: Humans / Male / Middle aged Language: En Journal: Acta Haematol Year: 2008 Document type: Article Affiliation country: United States

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