Fetal-haemoglobin enhancing genotype at BCL11A reduces HbA2 levels in patients with sickle cell anaemia.
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Date
2021
Authors
Adeyemo, Titilope A
Ojewunmi, OO
Oyetunji, AI
Kalejaiye, OO
Menzel, S
Journal Title
Journal ISSN
Volume Title
Publisher
Wiley/British Society for Haematology
Abstract
Understanding the interplay of genetic factors with haemoglobin expression and pathological processes in sickle cell disease is important for pharmacological and gene-therapeutic interventions. In our nascent study cohort of Nigerian patients, we found that three major disease-modifying factors, HbF levels, α-thalassaemia deletion and BCL11A genotype, had expected beneficial haematological effects. A key BCL11A variant, while improving HbF levels (5.7%–9.0%), also led to a small, but significant decrease in HbA2. We conclude that in general, interventions boosting HbF are likely to reduce HbA2 in patients’ erythroid cells and that such therapeutic strategies might benefit from a parallel stimulation of HbA2 through independent mechanisms.
Description
Keywords
Sickle cell disease , Haemoglobin A2 , BCLIIA
Citation
Adeyemo, TA, Ojewunmi, OO, Oyetunji, AI, Kalejaiye, OO, Menzel, S. Fetal-haemoglobin enhancing genotype at BCL11A reduces HbA2 levels in patients with sickle cell anaemia. eJHaem. 2021; 2: 459– 461. https://doi.org/10.1002/jha2.186