THE Hb S/β+-thalassemia phenotype demonstrates that the IVS-I (-2) (A>C) mutation is a mild β-thalassemia allele

Hemoglobin

Volumn 32, Issue 3, 2008, Pages 303-307

  Schmugge, Markus ^a   Waye, John S ^b   Basran, Raveen K ^b,c   Zurbriggen, Karin ^a   Frischknecht, Hannes ^d  

^a UNIVERSITY CHILDREN S HOSPITAL   (Switzerland)

^b MCMASTER UNIVERSITY   (Canada)

^c BOSTON MEDICAL CENTER   (United States)

^d Institute for Medical and Molecular Diagnostics Ltd   (Switzerland)

Author keywords

Hb S thalassemia ( thal); Mild hematological phenotype; Splice site mutation

Indexed keywords

BETA GLOBIN; GLUTAMIC ACID; HEMOGLOBIN A; HEMOGLOBIN S; VALINE;

ADULT; ALLELE; ARTICLE; BETA THALASSEMIA; DISEASE SEVERITY; FAMILY; FEMALE; HETEROZYGOSITY; HUMAN; MALE; MUTATION; PHENOTYPE; SIBLING;

ADULT; ALLELES; BETA-THALASSEMIA; FEMALE; HEMOGLOBIN, SICKLE; HETEROZYGOTE; HUMANS; MALE; POINT MUTATION; RNA SPLICE SITES; SIBLINGS;

EID: 45849104274     PISSN: 03630269     EISSN: 1532432X     Source Type: Journal    
DOI: 10.1080/03630260802004459     Document Type: Article

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