2009
DOI: 10.3324/haematol.2008.002675
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A novel (    ) -thalassemia deletion associated with an   globin gene triplication leading to a severe transfusion dependant fetal thalassemic syndrome

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Cited by 20 publications
(12 citation statements)
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“…However, it is noteworthy that our symptomatic patients had a severe neonatal course. Furthermore, the symptomatic patients did not have co‐existent α‐globin gene triplication, which has been previously suggested to exacerbate the phenotype of εγδβ‐thalassemia . Although CDA‐I is common in the Bedouin population in Israel, none of our 12 affected patients was found to carry two CDAN1 mutations.…”
Section: Discussionmentioning
confidence: 58%
“…However, it is noteworthy that our symptomatic patients had a severe neonatal course. Furthermore, the symptomatic patients did not have co‐existent α‐globin gene triplication, which has been previously suggested to exacerbate the phenotype of εγδβ‐thalassemia . Although CDA‐I is common in the Bedouin population in Israel, none of our 12 affected patients was found to carry two CDAN1 mutations.…”
Section: Discussionmentioning
confidence: 58%
“…The search of the most common a-locus deletions and point mutations was done using a reverse dot blot Kit (a-globin Strip Assay, ViennaLab, Vienna, Austria) and the direct sequencing of the HBA1 and HBA2 genes (Rose et al, 2009). In homozygous patients, large deletion on the HBB locus were sought using semi quantitative polymerase chain reaction (PCR).…”
Section: Data Investigations and Molecular Analysismentioning
confidence: 99%
“…We used the semi‐quantitative fluorescent PCR (SQF PCR) approach described previously (Hantash et al. , 2006b; Rose et al. , 2009) to design our β globin gene dosage assay.…”
Section: Methodsmentioning
confidence: 99%