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

Author:

Gardner Kate12,Fulford Tony3,Silver Nicholas1,Rooks Helen1,Angelis Nikolaos1,Allman Marlene2,Nkya Siana4,Makani Julie4,Howard Jo5,Kesse-Adu Rachel5,Rees David C.12,Stuart-Smith Sara26,Yeghen Tullie7,Awogbade Moji2,Sangeda Raphael Z.4,Mgaya Josephine4,Patel Hamel89,Newhouse Stephen8910,Menzel Stephan1ORCID,Thein Swee Lay12

Affiliation:

1. School of Cancer & Pharmaceutical Sciences, King’s College London, London, United Kingdom;

2. King’s College Hospital National Health Service (NHS) Foundation Trust, London, United Kingdom;

3. Behavioural Ecology, Department of Zoology, University of Cambridge, Cambridge, United Kingdom;

4. Muhimbili University of Health and Allied Sciences, Dar es Salaam, Tanzania;

5. Department of Haematology, Guy’s and St Thomas’ Hospitals NHS Foundation Trust, London, United Kingdom;

6. Queen Elizabeth Hospital and

7. University Hospital Lewisham, Lewisham and Greenwich NHS Trust, London, United Kingdom;

8. Department of Biostatistics and Health Informatics, Institute of Psychiatry, Psychology, and Neuroscience, King's College London, London, United Kingdom;

9. National Institute for Health Research Biomedical Research Centre at South London and Maudsley NHS Foundation Trust and King's College, London, United Kingdom; and

10. Farr Institute of Health Informatics Research, UCL Institute of Health Informatics, University College London, London, United Kingdom

Abstract

Key Points The 3 established HbF genetic loci can be summarized into 1 quantitative variable, g(HbF), in SCD and influence markers of SCD severity. g(HbF) provides a quantitative marker for the genetic component of HbF% variability, potentially useful in genetic and clinical studies in SCD.

Publisher

American Society of Hematology

Subject

Hematology

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