Relationship between neonatal screening results by HPLC and the number of a-thalassaemia gene mutations; Consequences for the cut-off value

Journal of Medical Screening

Volumn 18, Issue 4, 2011, Pages 182-186

  Bouva, M J ^a   Sollaino, C ^b   Perseu, L ^c   Galanello, R ^b   Giordano, P C ^d   Harteveld, C L ^d   Cnossen, M H ^e   Schielen, P C J I ^a   Elvers, L H ^a   Peters, M ^f  

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

^b Osp Regionale per le Microcitemie   (Italy)

^c CNR   (Italy)

^d LEIDEN UNIVERSITY MEDICAL CENTER   (Netherlands)

^e SOPHIA CHILDREN S HOSPITAL   (Netherlands)

^f EMMA CHILDREN S HOSPITAL   (Netherlands)

Author keywords

[No Author keywords available]

Indexed keywords

ALPHA GLOBIN; HEMOGLOBIN BART'S; HEMOGLOBIN H; HEMOGLOBIN VARIANT;

ALPHA THALASSEMIA; ARTICLE; BLOOD; BLOOD ANALYSIS; CHEMISTRY; FETUS BLOOD; GENETIC SCREENING; GENETICS; HETEROZYGOTE; HIGH PERFORMANCE LIQUID CHROMATOGRAPHY; HOMOZYGOTE; HUMAN; METHODOLOGY; MUTATION; NETHERLANDS; NEWBORN; NEWBORN SCREENING; NUCLEOTIDE SEQUENCE; RETROSPECTIVE STUDY;

ALPHA-GLOBINS; ALPHA-THALASSEMIA; BLOOD CHEMICAL ANALYSIS; CHROMATOGRAPHY, HIGH PRESSURE LIQUID; DNA MUTATIONAL ANALYSIS; FETAL BLOOD; GENETIC TESTING; HEMOGLOBIN H; HEMOGLOBINS, ABNORMAL; HETEROZYGOTE; HOMOZYGOTE; HUMANS; INFANT, NEWBORN; MUTATION; NEONATAL SCREENING; NETHERLANDS; RETROSPECTIVE STUDIES;

EID: 84555191783     PISSN: 09691413     EISSN: 14755793     Source Type: Journal    
DOI: 10.1258/jms.2011.011043     Document Type: Article

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