BCL11A: a potential diagnostic biomarker and therapeutic target in human diseases

J Yin, X Xie, Y Ye, L Wang, F Che - Bioscience reports, 2019 - portlandpress.com
Transcription factor B-cell lymphoma/leukemia 11A (BCL11A) gene encodes a zinc-finger
protein that is predominantly expressed in brain and hematopoietic tissue. BCL11A …

Variability of homozygous sickle cell disease: The role of alpha and beta globin chain variation and other factors

GR Serjeant, E Vichinsky - Blood Cells, Molecules, and Diseases, 2018 - Elsevier
The single base molecular substitution characterizing sickle cell haemoglobin, β 6 glu→ val,
might be expected to result in predictable haematological and clinical features. However, the …

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 …

Significance of genetic modifiers of hemoglobinopathies leading towards precision medicine

P Hariharan, M Gorivale, P Sawant, P Mehta… - Scientific reports, 2021 - nature.com
Hemoglobinopathies though a monogenic disorder, show phenotypic variability. Hence,
understanding the genetics underlying the heritable sub-phenotypes of …

Infection and potential challenge of childhood mortality in sickle cell disease: a comprehensive review of the literature from a global perspective

T Sahu, B Pande, HK Verma, L Bhaskar, M Sinha… - Thalassemia …, 2023 - mdpi.com
Sickle cell disease (SCD) is a complex genetic disorder associated with multiple clinical
manifestations, including increased susceptibility to bacterial and viral infections. This …

Erythrocyte microRNAs: a tiny magic bullet with great potential for sickle cell disease therapy

HK Verma, YK Ratre, L Bhaskar, R Colombatti - Annals of Hematology, 2021 - Springer
Sickle cell disease (SCD) is a severe hereditary blood disorder caused by a mutation of the
beta-globin gene, which results in a substantial reduction in life expectancy. Many studies …

The HBG2 rs7482144 (C> T) polymorphism is linked to HbF levels but not to the severity of sickle cell anemia

BVKS Lakkakula, S Pattnaik - Journal of Pediatric Genetics, 2023 - thieme-connect.com
Sickle cell anemia (SCA) is a severe disease characterized by anemia, acute clinical
complications, and a relatively short life span. In this disease, abnormal hemoglobin makes …

The association of HBG2, BCL11A, and HMIP polymorphisms with fetal hemoglobin and clinical phenotype in Iraqi Kurds with sickle cell disease

N Al‐Allawi, SMA Qadir, H Puehringer… - International Journal …, 2019 - Wiley Online Library
Abstract Introduction Fetal hemoglobin (HbF) is the major modifier for sickle cell disease
(SCD) severity. HbF is modulated mainly by three major quantitative trait loci (QTL) on …

Influence of single nucleotide polymorphisms in the BCL11A and HBS1L-MYB gene on the HbF levels and clinical severity of sickle cell anaemia patients

D Upadhye, D Jain, Y Trivedi, A Nadkarni, K Ghosh… - Annals of …, 2016 - Springer
Dear Editor, Sickle cell anaemia (SCA) is a monogenic disorder (β6-GAG-> GTG) with
exceptional phenotypic variability. In India, SCA is prevalent amongst tribal and some non …

A versatile and efficient novel approach for mendelian randomization analysis with application to assess the causal effect of fetal hemoglobin on anemia in sickle cell …

JSS Liyanage, JH Estepp, K Srivastava, SR Rashkin… - Mathematics, 2022 - mdpi.com
Mendelian randomization (MR) is increasingly employed as a technique to assess the
causation of a risk factor on an outcome using observational data. The two-stage least …