Homozygosity for nondeletion δ-β0 thalassemia resulting in a silent clinical phenotype

Blood

Volumn 100, Issue 5, 2002, Pages 1913-1914

  Galanello, Renzo ^a,b   Barella, Susanna ^a   Satta, Stefania ^a   Maccioni, Liliana ^a   Pintor, Carlo ^a   Cao, Antonio ^a  

^a UNIVERSITY OF CAGLIARI   (Italy)

^b Osp Regionale per le Microcitemie   (Italy)

Author keywords

[No Author keywords available]

Indexed keywords

HEMOGLOBIN; HEMOGLOBIN A2; HEMOGLOBIN F;

ARTICLE; BETA THALASSEMIA; CASE REPORT; CHILD; CLINICAL FEATURE; ERYTHROCYTE LIFESPAN; FEMALE; GENE DELETION; GENETIC TRANSCRIPTION; HOMOZYGOSITY; HUMAN; NONSENSE MUTATION; PHENOTYPE; PRIORITY JOURNAL; THALASSEMIA MAJOR;

EID: 0036720532     PISSN: 00064971     EISSN: None     Source Type: Journal    
DOI: 10.1182/blood.v100.5.1913.h81702001913_1913_1914     Document Type: Article

References (13)

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6. Evaluation of a new automatic HPLC analyser for thalassemia and hemoglobin variants screening
7. Hemoglobin synthesis
8. Sardinian δ β zero-thalassemia: A further example of a C to T substitution at position - 196 Of the A γ globin gene promoter
9. Normal δ-globin gene sequences in Sardinian nondeletional δ β-thalassemia
10. G gamma beta+ hereditary persistence of fetal hemoglobin: Cosmid cloning and identification of a specific mutation 5′ to the G gamma gene
11. Upstream promoter mutation associated with a modest elevation of fetal hemoglobin expression in human adults
12. Hereditary persistence of fetal hemoglobin