Prenatal diagnosis of haemoglobinopathies: Our experience of 523 cases

Clinical Chemistry and Laboratory Medicine

Volumn 51, Issue 12, 2013, Pages 2219-2225

  Grosso, Michela ^a,b   Puzone, Stella ^a,b   Storino, Maria Rosaria ^a,b   Sessa, Raffaele ^a,b   Izzo, Paola ^a,b  

^a CEINGE BIOTECNOLOGIE AVANZATE   (Italy)

^b UNIVERSITY OF NAPLES FEDERICO II   (Italy)

Author keywords

Amniocytes; Chorionic villi; Genetic counselling; Haemoglobinopathies; Prenatal diagnosis; Thalassaemia

Indexed keywords

DNA; FERRITIN; HEMOGLOBIN F; HEMOGLOBIN S; IRON;

ALPHA THALASSEMIA; AMNIOCENTESIS; AMNION CELL; ARTICLE; BETA THALASSEMIA; CATION EXCHANGE; CHORION VILLUS; CHORION VILLUS SAMPLING; CHROMOSOME ANALYSIS; DNA DETERMINATION; DNA SEQUENCE; FAMILY HISTORY; FEMALE; FERRITIN BLOOD LEVEL; GENE REARRANGEMENT; GLOBIN GENE; HEMOGLOBINOPATHY; HETEROZYGOSITY; HIGH PERFORMANCE LIQUID CHROMATOGRAPHY; HUMAN; IMMUNE DEFICIENCY; INDUCED ABORTION; IRON BLOOD LEVEL; MAJOR CLINICAL STUDY; MALE; MICROCYTOSIS; MULTIPLEX LIGATION DEPENDENT PROBE AMPLIFICATION; PARENT COUNSELING; PATIENT DECISION MAKING; POINT MUTATION; PRENATAL DIAGNOSIS; PRENATAL SCREENING; PRIORITY JOURNAL; SEQUENCE ANALYSIS; SPONTANEOUS ABORTION; TANDEM REPEAT; TRISOMY 18; TWIN PREGNANCY;

FEMALE; HEMOGLOBINOPATHIES; HUMANS; PREGNANCY; PRENATAL DIAGNOSIS; REPRODUCIBILITY OF RESULTS;

EID: 84889265082     PISSN: 14346621     EISSN: 14374331     Source Type: Journal    
DOI: 10.1515/cclm-2013-0195     Document Type: Article

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