A novel (    ) -thalassemia deletion associated with an   globin gene triplication leading to a severe transfusion dependant fetal thalassemic syndrome

Rose, Christian; Rossignol, Julien; Lambilliotte, Anne; Depret, S.; Metayer, Nathalie Le; Pissard, Serge

doi:10.3324/haematol.2008.002675

Cited by 19 publications

(12 citation statements)

References 11 publications

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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%

A novel epsilon gamma delta beta thalassemia presenting with pregnancy complications and severe neonatal anemia

Shalev

Landau

Pissard³

et al. 2013

European J of Haematology

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Section: Discussionmentioning

confidence: 58%

A novel epsilon gamma delta beta thalassemia presenting with pregnancy complications and severe neonatal anemia

Shalev

Landau

Pissard³

et al. 2013

European J of Haematology

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“…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%

Red blood cells free α‐haemoglobin pool: a biomarker to monitor the β‐thalassemia intermedia variability. The ALPHAPOOL study

et al. 2017

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The severity of β-thalassaemia (β-thal) intermedia is mainly correlated to the degree of imbalanced α/non α-globin chain synthesis. The phenotypic diversity of β-thal depends on this imbalance and reflects all possible combinations of α- and β-globin genotypes, levels of fetal haemoglobin (HbF) and co-inheritance of other modulating factors. This study aimed to demonstrate the validity of a new surrogate of α/non α-globin biosynthetic ratio by measuring the soluble α-Hb pool in lysed red blood cells. Our results confirm that the α-Hb pool measurement allows a good discrimination between β-thal intermedia patients, controls and α-thal patients (P < 0·003). Receiver operator characteristic analyses revealed an area under the curve of 0·978 for the α-Hb pool measurement at a threshold of 120 ng free α-Hb/mg of total Hb/ml of haemolysate (ppm) with a sensitivity and specificity of 86% and 100%, respectively, to discriminate between β-thal and not β-thal subjects. Significant correlations were observed between the α-Hb pool and biological parameters of β-thal, the most significant association being observed with red cell hexokinase activity. This study indicates that the α-Hb pool could be a new marker for assistance in diagnostic orientation of β-thal intermedia patients and may be clinically useful for monitoring the evolution of the disequilibrium of globin synthesis in response to treatments.

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“…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%

The importance of β globin deletion analysis in the evaluation of patients with β thalassemia

Mikula

Buller-Burckle

Gallivan

et al. 2011

Int J Lab Hematology

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A novel ( ) -thalassemia deletion associated with an globin gene triplication leading to a severe transfusion dependant fetal thalassemic syndrome

Cited by 19 publications

References 11 publications

A novel epsilon gamma delta beta thalassemia presenting with pregnancy complications and severe neonatal anemia

A novel epsilon gamma delta beta thalassemia presenting with pregnancy complications and severe neonatal anemia

Red blood cells free α‐haemoglobin pool: a biomarker to monitor the β‐thalassemia intermedia variability. The ALPHAPOOL study

The importance of β globin deletion analysis in the evaluation of patients with β thalassemia

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