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

Acta Haematologica

Volumn 120, Issue 3, 2009, Pages 168-173

  Sussman, Norman L ^a   Lee, Pauline L ^c   Dries, Andrew M ^d   Schwartz, Mary R ^b   Barton, James C ^e,f,g  

^a BAYLOR COLLEGE OF MEDICINE   (United States)

^b HOUSTON METHODIST HOSPITAL   (United States)

^c SCRIPPS RESEARCH INSTITUTE   (United States)

^d CAROLINAS MEDICAL CENTER   (United States)

^e UNIVERSITY OF ALABAMA AT BIRMINGHAM   (United States)

^f University of Alabama at Birmingham   (United States)

^g SOUTHERN IRON DISORDERS CENTER   (United States)

Author keywords

Cardiomyopathy; Cirrhosis; Cocaine; Diabetes mellitus; Hemochromatosis; Hepatitis C

Indexed keywords

5 AMINOLEVULINATE SYNTHASE; COCAINE; COMPLEMENTARY DNA; FERRITIN; GENOMIC DNA; TRANSFERRIN;

ADULT; AFRICAN AMERICAN; ALAS2 GENE; ARTICLE; CARDIOMYOPATHY; CASE REPORT; CAUSE OF DEATH; CLINICAL FEATURE; DIABETES MELLITUS; DRUG USE; EXON; FERRITIN BLOOD LEVEL; GENE; GENE AMPLIFICATION; GENE MUTATION; HEART MUSCLE BIOPSY; HEMIZYGOTE; HEPATITIS C; HETEROZYGOTE; HUMAN; IRON ABSORPTION; IRON OVERLOAD; LIVER BIOPSY; LIVER CIRRHOSIS; MALE; MICROCYTIC ANEMIA; NUCLEAR MAGNETIC RESONANCE IMAGING; PRIORITY JOURNAL; SLC40A1 GENE; X LINKED SIDEROBLASTIC ANEMIA;

5-AMINOLEVULINATE SYNTHETASE; AFRICAN AMERICANS; AMINO ACID SUBSTITUTION; ANEMIA, SIDEROBLASTIC; CARDIOMYOPATHIES; CATION TRANSPORT PROTEINS; GENETIC DISEASES, X-LINKED; HEPATOCYTES; HUMANS; IRON OVERLOAD; LIVER CIRRHOSIS; MALE; MIDDLE AGED; MUTATION, MISSENSE; MYOCYTES, CARDIAC;

EID: 57249084174     PISSN: 00015792     EISSN: None     Source Type: Journal    
DOI: 10.1159/000181183     Document Type: Article

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