Literature DB >> 26888013

Reduced rate of sickle-related complications in Brazilian patients carrying HbF-promoting alleles at the BCL11A and HMIP-2 loci.

Flávia C Leonardo1, Ana F Brugnerotto1, Igor F Domingos2, Kleber Y Fertrin1, Dulcinéia M de Albuquerque1, Marcos A C Bezerra2, Aderson S Araújo3, Sara T O Saad1, Fernando F Costa1, Stephan Menzel4, Nicola Conran1, Swee Lay Thein4,5.   

Abstract

The presence of high levels of fetal haemoglobin (HbF) provides well-validated clinical benefits to patients with sickle cell anaemia (SCA). Nevertheless it has been difficult to show clear direct effects of the known genetic HbF modifiers, such as the enhancer polymorphisms for haematopoietic transcription factors BCL11A and MYB, on SCA severity. Investigating SCA patients from Brazil, with a high degree of European genetic admixture, we have detected strong effects of these variants on HbF levels. Critically, we have shown, for the first time, that the presence of such HbF-promoting variants leads to a reduced rate of SCA complications, especially stroke.
© 2016 John Wiley & Sons Ltd.

Entities:  

Keywords:  BCL11A; HMIP-2; HbF quantitative trait loci

Mesh：

Substances：

Year:  2016        PMID： 26888013     DOI： 10.1111/bjh.13961

Source DB:  PubMed          Journal:  Br J Haematol        ISSN： 0007-1048            Impact factor:   6.998


  10 in total

1.  Clinical and genetic factors are associated with pain and hospitalisation rates in sickle cell anaemia in Cameroon.

Authors:  Ambroise Wonkam; Khuthala Mnika; Valentina J Ngo Bitoungui; Bernard Chetcha Chemegni; Emile R Chimusa; Collet Dandara; Andre P Kengne
Journal:  Br J Haematol       Date:  2017-12-03       Impact factor: 6.998

2.  g(HbF): a genetic model of fetal hemoglobin in sickle cell disease.

Authors:  Kate Gardner; Tony Fulford; Nicholas Silver; Helen Rooks; Nikolaos Angelis; Marlene Allman; Siana Nkya; Julie Makani; Jo Howard; Rachel Kesse-Adu; David C Rees; Sara Stuart-Smith; Tullie Yeghen; Moji Awogbade; Raphael Z Sangeda; Josephine Mgaya; Hamel Patel; Stephen Newhouse; Stephan Menzel; Swee Lay Thein
Journal:  Blood Adv       Date:  2018-02-13

Review 3.  Genetic Modifiers of Fetal Haemoglobin in Sickle Cell Disease.

Authors:  Stephan Menzel; Swee Lay Thein
Journal:  Mol Diagn Ther       Date:  2019-04       Impact factor: 4.074

Review 4.  Molecular basis of β thalassemia and potential therapeutic targets.

Authors:  Swee Lay Thein
Journal:  Blood Cells Mol Dis       Date:  2017-06-20       Impact factor: 3.039

5.  Influence of UGT1A1 promoter polymorphism, α-thalassemia and βs haplotype in bilirubin levels and cholelithiasis in a large sickle cell anemia cohort.

Authors:  Jéssica V G F Batista; Gabriela S Arcanjo; Thais H C Batista; Marcondes J Sobreira; Rodrigo M Santana; Igor F Domingos; Betânia L Hatzlhofer; Diego A Falcão; Diego A Pereira-Martins; Jéssica M Oliveira; Amanda S Araujo; Luana P M Laranjeira; Fernanda S Medeiros; Flávia P Albuquerque; Dulcinéia M Albuquerque; Magnun N Santos; Manuela F Hazin; Ana C Dos Anjos; Fernando F Costa; Aderson S Araujo; Antonio R Lucena-Araujo; Marcos A Bezerra
Journal:  Ann Hematol       Date:  2021-02-01       Impact factor: 3.673

6.  Fetal hemoglobin-boosting haplotypes of BCL11A gene and HBS1L-MYB intergenic region in the prediction of clinical and hematological outcomes in a cohort of children with sickle cell anemia.

Authors:  Rahyssa Rodrigues Sales; Bárbara Lisboa Nogueira; André Rolim Belisário; Gabriela Faria; Fabiola Mendes; Marcos Borato Viana; Marcelo Rizzatti Luizon
Journal:  J Hum Genet       Date:  2022-09-27       Impact factor: 3.755

Review 7.  Sickle Cell Anemia and Its Phenotypes.

Authors:  Thomas N Williams; Swee Lay Thein
Journal:  Annu Rev Genomics Hum Genet       Date:  2018-04-11       Impact factor: 9.340

8.  Genetic comparison of sickle cell anaemia cohorts from Brazil and the United States reveals high levels of divergence.

Authors:  Pedro R S Cruz; Galina Ananina; Vera Lucia Gil-da-Silva-Lopes; Milena Simioni; Farid Menaa; Marcos A C Bezerra; Igor F Domingos; Aderson S Araújo; Renata Pellegrino; Hakon Hakonarson; Fernando F Costa; Mônica Barbosa de Melo
Journal:  Sci Rep       Date:  2019-07-26       Impact factor: 4.379

9.  Associations of α-thalassemia and BCL11A with stroke in Nigerian, United States, and United Kingdom sickle cell anemia cohorts.

Authors:  Santosh L Saraf; Titilola S Akingbola; Binal N Shah; Chinedu A Ezekekwu; Omowunmi Sonubi; Xu Zhang; Lewis L Hsu; Mark T Gladwin; Roberto F Machado; Richard S Cooper; Victor R Gordeuk; Bamidele O Tayo
Journal:  Blood Adv       Date:  2017-04-25

10.  Proteomic analysis of plasma from children with sickle cell anemia and silent cerebral infarction.

Authors:  Sanjay Tewari; George Renney; John Brewin; Kate Gardner; Fenella Kirkham; Baba Inusa; James E Barrett; Stephan Menzel; Swee Lay Thein; Malcolm Ward; David C Rees
Journal:  Haematologica       Date:  2018-03-15       Impact factor: 9.941
  10 in total

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