Two new β-thalassemia deletions compromising prenatal diagnosis in an Italian and a Turkish couple seeking prevention

Haematologica

Volumn 94, Issue 9, 2009, Pages 1289-1292

  Phylipsen, Marion ^a   Amato, Antonio ^b   Cappabianca, Maria Pia ^b   Traeger Synodinos, Jan ^c   Kanavakis, Emmanuel ^c   Basak, Nazli ^d   Galanello, Renzo ^e   Tuveri, Teresa ^e   Ivaldi, Giovanni ^f   Harteveld, Cornelis L ^a   Giordano, Piero C ^a  

^a LEIDEN UNIVERSITY MEDICAL CENTER   (Netherlands)

^b Associazione Nazionale Microcitemie Italia ANMI ONLUS   (Italy)

^c UNIVERSITY OF ATHENS   (Greece)

^d BOGAZICI UNIVERSITY   (Turkey)

^e UNIVERSITY OF CAGLIARI   (Italy)

^f GALLIERA HOSPITAL   (Italy)

Author keywords

Multiplex ligation dependent probe amplification; Prevention; Thalassemia

Indexed keywords

BETA GLOBIN; HEMOGLOBIN A2; HEMOGLOBIN F;

ADULT; AGED; ARTICLE; BETA THALASSEMIA; CLINICAL ARTICLE; CODON; FEMALE; GENE DELETION; GLOBIN GENE; HETEROZYGOSITY; HETEROZYGOTE; HUMAN; IRON DEFICIENCY; ITALY; MALE; MICROCYTIC ANEMIA; PHENOTYPE; PRENATAL DIAGNOSIS; PREVENTIVE MEDICINE; TURKEY (REPUBLIC);

BASE SEQUENCE; BETA-GLOBINS; BETA-THALASSEMIA; FEMALE; GENETIC COUNSELING; HUMANS; ITALY; MALE; PEDIGREE; SEQUENCE DELETION; TURKEY;

EID: 70349123056     PISSN: 03906078     EISSN: 15928721     Source Type: Journal    
DOI: 10.3324/haematol.2009.007989     Document Type: Article

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