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

Clinical Hemorheology and Microcirculation
Philippe JolyCéline Renoux

Abstract

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).

References

Aug 1, 2008·Proceedings of the National Academy of Sciences of the United States of America·Guillaume LettreStuart H Orkin
Apr 7, 2009·British Journal of Haematology·Swee Lay Thein, Stephan Menzel
Mar 19, 2013·British Journal of Haematology·Philippe ConnesFrançoise Bernaudin
Dec 7, 2014·Haematologica·Fabrice DanjouRenzo Galanello
Aug 2, 2017·Clinical Hemorheology and Microcirculation·Nathalie LemonnePhilippe Connes
Feb 14, 2018·Blood Advances·Kate GardnerSwee Lay Thein
Apr 5, 2018·Clinical Hemorheology and Microcirculation·Alicia K ChangVivien A Sheehan
Nov 24, 2018·British Journal of Haematology·Claudine LapoumeroulieMarie-Dominique Hardy-Dessources

❮ Previous
Next ❯

Related Concepts

Related Feeds

Anemia

Anemia develops when your blood lacks enough healthy red blood cells. Anemia of inflammation (AI, also called anemia of chronic disease) is a common, typically normocytic, normochromic anemia that is caused by an underlying inflammatory disease. Here is the latest research on anemia.

Blood And Marrow Transplantation

The use of hematopoietic stem cell transplantation or blood and marrow transplantation (bmt) is on the increase worldwide. BMT is used to replace damaged or destroyed bone marrow with healthy bone marrow stem cells. Here is the latest research on bone and marrow transplantation.

Related Papers

Current Topics in Hematology
D R Higgs, D J Weatherall
Progress in Clinical and Biological Research
D RucknagelC Bruzdzinski
Genetics in Medicine : Official Journal of the American College of Medical Genetics
Renzo Galanello, Antonio Cao
Annals of the New York Academy of Sciences
H Lehmann, A Lang
Problemy gematologii i perelivaniia krovi
M N KulaginIu N Tokarev
© 2021 Meta ULC. All rights reserved