Codon 24 (TAT>TAG) and codon 32 (ATG>AGG) (Hb rotterdam): Two novel α2 gene mutations associated with mild α-Thalassemia found in the same family after newborn screening

Hemoglobin

Volumn 34, Issue 4, 2010, Pages 354-365

  Giordano, Piero C ^a   Cnossen, Marjon H ^b   Joosten, Annemarie M S ^c   Jansen, Cees A M ^d   Hakvoort, Tineke E ^e   Bakker Verweij, Margreet ^a   Arkesteijn, Sandra G J ^a   Van Delft, Peter ^a   Waye, John S ^f   Bouva, Marelle J ^g   Harteveld, Cornelis L ^a  

^a LEIDEN UNIVERSITY MEDICAL CENTER   (Netherlands)

^b SOPHIA CHILDREN S HOSPITAL   (Netherlands)

^c ERASMUS MEDICAL CENTER   (Netherlands)

^d Reinier de Graafgroep ^*  (Netherlands)

^e General Practitioner   (Netherlands)

^f HAMILTON REGIONAL LABORATORY MEDICINE PROGRAM   (Canada)

^g NATIONAL INSTITUTE FOR PUBLIC HEALTH AND THE ENVIRONMENT   (Netherlands)

Author keywords

Thalassemia ( thal); Anemia; Newborn screening; Prevention

Indexed keywords

ADULT; ALPHA THALASSEMIA; ALPHA2 GLOBIN GENE; ARTICLE; CASE REPORT; CODON; FEMALE; GENE MUTATION; GENOTYPE PHENOTYPE CORRELATION; GLOBIN GENE; HUMAN; HUMAN CELL; IRON DEFICIENCY ANEMIA; MALE; MEAN CORPUSCULAR HEMOGLOBIN; MEAN CORPUSCULAR VOLUME; NEWBORN; NEWBORN SCREENING; POINT MUTATION; STOP CODON;

ADULT; ALPHA-GLOBINS; ALPHA-THALASSEMIA; CODON; FAMILY HEALTH; FEMALE; GENETIC PREDISPOSITION TO DISEASE; GENETIC TESTING; HEMOGLOBINS, ABNORMAL; HUMANS; INFANT, NEWBORN; MIDDLE AGED; MUTATION; NEONATAL SCREENING; PEDIGREE;

EID: 77954854335     PISSN: 03630269     EISSN: 1532432X     Source Type: Journal    
DOI: 10.3109/03630269.2010.486341     Document Type: Article

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