Fetal-haemoglobin enhancing genotype at BCL11A reduces HbA 2 levels in patients with sickle cell anaemia

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...

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Bibliographic Details
Published inEJHaem Vol. 2; no. 3; pp. 459 - 461
Main Authors Adeyemo, Titilope A, Ojewunmi, Oyesola O, Oyetunji, Idayat Ajoke, Kalejaiye, Olufunto Olufela, Menzel, Stephan
Format Journal Article
LanguageEnglish
Published United States 01.08.2021
Subjects
African patient population
genetic analysis
BCL11A
HbA
sickle cell disease
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Summary: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 genotype, had expected beneficial haematological effects. A key variant, while improving HbF levels (5.7%-9.0%), also led to a small, but significant decrease in HbA . We conclude that in general, interventions boosting HbF are likely to reduce HbA in patients' erythroid cells and that such therapeutic strategies might benefit from a parallel stimulation of HbA through independent mechanisms.
ISSN:2688-6146
2688-6146
DOI:10.1002/jha2.186