HbF-promoting polymorphisms may specifically reduce the residual risk of cerebral vasculopathy in SCA children with alpha-thalassemia

Author(s):  
Philippe Joly ◽  
Nathalie Bonello-Palot ◽  
Catherine Badens ◽  
Serge Pissard ◽  
Abdourahim Chamouine ◽  
...  

Sickle cell anemia (SCA) is a disease characterized by abnormal red blood cell rheology. Because of their effects on HbS polymerization and red blood cell deformability, alpha-thalassemia and the residual HbF level are known genetic modifiers of the disease. The aim of our study was to determine if the number of HbF quantitative trait loci (QTL) would also favor a specific sub-phenotype of SCA as it is the case for alpha-thalassemia. Our results confirmed that alpha-thalassemia protected from cerebral vasculopathy but increased the risk for frequent painful vaso-occlusive crises. We also showed that more HbF-QTL may provide an additional and specific protection against cerebral vasculopathy but only for children with alpha-thalassemia (-α/αα or -α/-α genotypes).


2014 ◽  
Vol 57 (1) ◽  
pp. 63-72 ◽  
Author(s):  
Yann Lamarre ◽  
Marc Romana ◽  
Nathalie Lemonne ◽  
Marie-Dominique Hardy-Dessources ◽  
Vanessa Tarer ◽  
...  


2016 ◽  
Vol 62 (2) ◽  
pp. 173-179 ◽  
Author(s):  
Céline Renoux ◽  
Nermi Parrow ◽  
Camille Faes ◽  
Philippe Joly ◽  
Max Hardeman ◽  
...  


PLoS ONE ◽  
2016 ◽  
Vol 11 (5) ◽  
pp. e0154866 ◽  
Author(s):  
Kizzy-Clara Cita ◽  
Laurent Brureau ◽  
Nathalie Lemonne ◽  
Marie Billaud ◽  
Philippe Connes ◽  
...  


Blood ◽  
2013 ◽  
Vol 121 (15) ◽  
pp. 3054-3056 ◽  
Author(s):  
Nathalie Lemonne ◽  
Yann Lamarre ◽  
Marc Romana ◽  
Martin Mukisi-Mukaza ◽  
Marie-Dominique Hardy-Dessources ◽  
...  




Haematologica ◽  
2015 ◽  
Vol 100 (10) ◽  
pp. e383-e386 ◽  
Author(s):  
N. Lemonne ◽  
K. Charlot ◽  
X. Waltz ◽  
S. K. Ballas ◽  
Y. Lamarre ◽  
...  


2016 ◽  
Vol 64 (1) ◽  
pp. 47-53 ◽  
Author(s):  
Anaïs Mozar ◽  
Philippe Connes ◽  
Bianca Collins ◽  
Marie-Dominique Hardy-Dessources ◽  
Marc Romana ◽  
...  


2007 ◽  
Vol 38 (5) ◽  
pp. 447-452 ◽  
Author(s):  
G. Reiner ◽  
R. Fischer ◽  
S. Hepp ◽  
T. Berge ◽  
F. Köhler ◽  
...  


Author(s):  
Adam Attila Matrai ◽  
Gabor Varga ◽  
Bence Tanczos ◽  
Barbara Barath ◽  
Adam Varga ◽  
...  

BACKGROUND: The effects of temperature on micro-rheological variables have not been completely revealed yet. OBJECTIVE: To investigate micro-rheological effects of heat treatment in human, rat, dog, and porcine blood samples. METHODS: Red blood cell (RBC) - buffer suspensions were prepared and immersed in a 37, 40, and 43°C heat-controlled water bath for 10 minutes. Deformability, as well as mechanical stability of RBCs were measured in ektacytometer. These tests were also examined in whole blood samples at various temperatures, gradually between 37 and 45°C in the ektacytometer. RESULTS: RBC deformability significantly worsened in the samples treated at 40 and 43°C degrees, more expressed in human, porcine, rat, and in smaller degree in canine samples. The way of heating (incubation vs. ektacytometer temperation) and the composition of the sample (RBC-PBS suspension or whole blood) resulted in the different magnitude of RBC deformability deterioration. Heating affected RBC membrane (mechanical) stability, showing controversial alterations. CONCLUSION: Significant changes occur in RBC deformability by increasing temperature, showing inter-species differences. The magnitude of alterations is depending on the way of heating and the composition of the sample. The results may contribute to better understanding the micro-rheological deterioration in hyperthermia or fever.



Lab on a Chip ◽  
2015 ◽  
Vol 15 (1) ◽  
pp. 159-167 ◽  
Author(s):  
Marie-Eve Myrand-Lapierre ◽  
Xiaoyan Deng ◽  
Richard R. Ang ◽  
Kerryn Matthews ◽  
Aline T. Santoso ◽  
...  

Mechanism for multiplexed measurement of single red blood cell deformability to evaluate pathological cells in a heterogeneous sample.



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