Iron overload in an African American woman with SS hemoglobinopathy and a promoter mutation in the X-linked erythroid-specific 5-aminolevulinate synthase (ALAS2) gene

Blood Cells, Molecules, and Diseases

Volumn 34, Issue 3, 2005, Pages 226-228

  Barton, James C ^a,b,d   Lee, Pauline L ^c   Bertoli, Luigi F ^a   Beutler, Ernest ^c  

^a SOUTHERN IRON DISORDERS CENTER   (United States)

^b University of Alabama at Birmingham   (United States)

^c SCRIPPS RESEARCH INSTITUTE   (United States)

^d NONE   (United States)

Author keywords

African American; ALAS2; Hemochromatosis; Iron; Iron overload; Mutation; Promoter; Sickle cell anemia

Indexed keywords

5 AMINOLEVULINATE SYNTHASE;

ADULT; AFRICAN AMERICAN; AMINO ACID SUBSTITUTION; ARTICLE; CASE REPORT; CAUCASIAN; DISEASE SEVERITY; ENZYME SPECIFICITY; ERYTHROID CELL; FEMALE; GENE MUTATION; GENETIC ASSOCIATION; GENETIC CODE; HEMOGLOBINOPATHY; HUMAN; IRON OVERLOAD; NEGRO; PRIORITY JOURNAL; PROMOTER REGION; SICKLE CELL ANEMIA; SIDEROBLASTIC ANEMIA; TRANSCRIPTION INITIATION SITE; X CHROMOSOME LINKAGE; X CHROMOSOME LINKED DISORDER;

5-AMINOLEVULINATE SYNTHETASE; ADULT; AFRICAN AMERICANS; ANEMIA; ANEMIA, SICKLE CELL; FAMILY HEALTH; FEMALE; HETEROZYGOTE; HUMANS; IRON OVERLOAD; POINT MUTATION; PROMOTER REGIONS (GENETICS);

PIERINAE;

EID: 18844415104     PISSN: 10799796     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.bcmd.2005.01.001     Document Type: Article

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