Recent trends in the gene therapy of β-thalassemia

A Finotti, L Breda, CW Lederer, N Bianchi… - Journal of blood …, 2015 - Taylor & Francis
The β-thalassemias are a group of hereditary hematological diseases caused by over 300
mutations of the adult β-globin gene. Together with sickle cell anemia, thalassemia …

Do genetic polymorphisms affect fetal hemoglobin (HbF) levels in patients with sickle cell anemia treated with hydroxyurea? A systematic review and pathway analysis

RR Sales, BL Nogueira, JAG Tosatti… - Frontiers in …, 2022 - frontiersin.org
Hydroxyurea has long been used for the treatment of sickle cell anemia (SCA), and its
clinical effectiveness is related to the induction of fetal hemoglobin (HbF), a major modifier of …

[HTML][HTML] Frequency of hospitalizations for pain and association with altered brain network connectivity in sickle cell disease

DS Darbari, JP Hampson, E Ichesco, N Kadom… - The Journal of …, 2015 - Elsevier
Sickle cell disease (SCD) is a hemoglobinopathy that affects more than 100,000 individuals
in the United States. The disease is characterized by the presence of sickle hemoglobin and …

Three fingers on the switch: Krüppel-like factor 1 regulation of: γ-globin: to: β-globin: gene switching

MR Tallack, AC Perkins - Current opinion in hematology, 2013 - journals.lww.com
KLF1 regulates the γ-globin to β-globin genetic switch by many mechanisms. Firstly, it
facilitates formation of an active chromatin hub (ACH) at the β-globin gene cluster …

Advances in technologies for screening and diagnosis of hemoglobinopathies

J Traeger-Synodinos, CL Harteveld - Biomarkers in Medicine, 2014 - Taylor & Francis
Hemoglobinopathies constitute the most common monogenic disorders worldwide, caused
by mutations in the globin genes that synthesize the globin chains of hemoglobin. Synthesis …

Hydroxyurea in the management of sickle cell disease: pharmacogenomics and enzymatic metabolism

SCMA Yahouédéhou, EV Adorno… - The …, 2018 - nature.com
Hydroxyurea (HU) was approved to be used in the treatment of sickle cell disease (SCD)
because of its anti-sickling potential. However, there is variability in HU response among …

Genome-based therapeutic interventions for β-type hemoglobinopathies

K Karamperis, MT Tsoumpeli, F Kounelis, M Koromina… - Human Genomics, 2021 - Springer
For decades, various strategies have been proposed to solve the enigma of
hemoglobinopathies, especially severe cases. However, most of them seem to be lagging in …

Pharmacological and molecular approaches for the treatment of β‐hemoglobin disorders

N Lohani, N Bhargava, A Munshi… - Journal of cellular …, 2018 - Wiley Online Library
β‐hemoglobin disorders, such as β‐thalassemia and sickle cell anemia are among the most
prevalent inherited genetic disorders worldwide. These disorders are caused by mutations …

Distinct miRNA signatures and networks discern fetal from adult erythroid differentiation and primary from immortalized erythroid cells

PL Papasavva, NY Papaioannou, P Patsali… - International journal of …, 2021 - mdpi.com
MicroRNAs (miRNAs) are small non-coding RNAs crucial for post-transcriptional and
translational regulation of cellular and developmental pathways. The study of miRNAs in …

Preconception carrier screening and prenatal diagnosis in thalassemia and hemoglobinopathies: challenges and future perspectives

J Traeger-Synodinos, CL Harteveld - Expert review of molecular …, 2017 - Taylor & Francis
Introduction: Hemoglobinopathies constitute the most common severe monogenic disorders
worldwide, with an increasing global burden each year. The benefit of applying programmes …