Genetic variation and sickle cell disease severity: a systematic review and meta-analysis

JK Kirkham, JH Estepp, MJ Weiss… - JAMA network …, 2023 - jamanetwork.com
Importance Sickle cell disease (SCD) is a monogenic disorder, yet clinical outcomes are
influenced by additional genetic factors. Despite decades of research, the genetics of SCD …

α-Globin mutations and Genetic Variants in γ-globin Promoters are Associated with Unelevated Hemoglobin F Expression of Atypical β0-thalassemia/HbE

S Satthakarn, S Panyasai - Archives of Medical Research, 2024 - Elsevier
Background Excessive expression of hemoglobin F (HbF) is a characteristic feature and
important diagnostic marker of β 0-thalassemia/HbE disease. However, some patients may …

Foetal haemoglobin elevation, unfavourable prognosis, and protective role of genetic variants HBG2 rs7482144, HBS1L-MYB rs9399137 and BCL11A rs4671393 in …

FJ Borrayo-Lopez, B Ibarra-Cortes, FJ Perea-Diaz… - Journal of Genetics, 2024 - Springer
In acute lymphoblastic leukaemia (ALL), elevated foetal haemoglobin (HbF) levels have
been associated with the prognosis of patients. Genetic variants in HbF regulatory genes …