Heterozygous missense mutations in the GLRX5 gene cause sideroblastic anemia in a Chinese patient

Blood

Volumn 124, Issue 17, 2014, Pages 2750-2751

  Liu, Gang ^a   Guo, Shanshan ^a   Anderson, Gregory J ^b   Camaschella, Clara ^c   Han, Bing ^d   Nie, Guangjun ^a  

^a NATIONAL CENTER FOR NANOSCIENCE AND TECHNOLOGY   (China)

^b QIMR BERGHOFER MEDICAL RESEARCH INSTITUTE   (Australia)

^c SAN RAFFAELE HOSPITAL   (Italy)

^d PEKING UNION MEDICAL COLLEGE HOSPITAL   (China)

Author keywords

[No Author keywords available]

Indexed keywords

DEFEROXAMINE; FERRITIN; GLUTAREDOXIN; GLUTAREDOXIN 5; HEMOGLOBIN; MITOCHONDRIAL DNA; PYRIDOXINE; TRANSFERRIN; UNCLASSIFIED DRUG; GLRX5 PROTEIN, HUMAN;

ADULT; BLOOD SMEAR; BONE MARROW BIOPSY; CASE REPORT; CHINESE; CONGENITAL SIDEROBLASTIC ANEMIA; CONTROLLED STUDY; DARK SKIN; DIABETES MELLITUS; FERRITIN BLOOD LEVEL; GENE DELETION; HEMOGLOBIN BLOOD LEVEL; HEPATOSPLENOMEGALY; HETEROZYGOTE; HUMAN; HUMAN TISSUE; HYPERPLASIA; INFORMED CONSENT; IRON CHELATION; LETTER; LIVER BIOPSY; MALE; MIDDLE AGED; MILD ERYTHROID HYPERPLASIA; MISSENSE MUTATION; PERIPHERAL EDEMA; SIDEROBLASTIC ANEMIA; SKIN COLOR; TRANSFERRIN BLOOD LEVEL; TREATMENT DURATION; VITAMIN SUPPLEMENTATION; CHINA; GENETIC PREDISPOSITION; GENETICS;

ANEMIA, SIDEROBLASTIC; CHINA; GENETIC PREDISPOSITION TO DISEASE; GLUTAREDOXINS; HETEROZYGOTE; HUMANS; MALE; MIDDLE AGED; MUTATION, MISSENSE;

EID: 84908251186     PISSN: 00064971     EISSN: 15280020     Source Type: Journal    
DOI: 10.1182/blood-2014-08-598508     Document Type: Letter

References (7)

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