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 …

Fetal hemoglobin in sickle cell anemia

MH Steinberg - Blood, The Journal of the American Society of …, 2020 - ashpublications.org
Fetal hemoglobin (HbF) can blunt the pathophysiology, temper the clinical course, and offer
prospects for curative therapy of sickle cell disease. This review focuses on (1) HbF …

Fetal hemoglobin in sickle cell anemia: The Arab‐Indian haplotype and new therapeutic agents

AH Habara, EM Shaikho… - American journal of …, 2017 - Wiley Online Library
Fetal hemoglobin (HbF) has well‐known tempering effects on the symptoms of sickle cell
disease and its levels vary among patients with different haplotypes of the sickle hemoglobin …

Targeting fetal hemoglobin expression to treat β hemoglobinopathies

MH Steinberg - Expert Opinion on Therapeutic Targets, 2022 - Taylor & Francis
Introduction Sickle cell disease and β thalassemia are the principal β hemoglobinopathies.
The complex pathophysiology of sickle cell disease is initiated by sickle hemoglobin …

Prevalence and diversity of haplotypes of sickle cell disease in the Eastern Province of Saudi Arabia

AK Al-Ali, A Alsulaiman, AJ Alzahrani, OT Obeid… - …, 2020 - Taylor & Francis
Hb F modulates sickle cell disease. Five major haplotypes of the β-globin gene cluster are
associated with sickle cell disease. In the Eastern Province of Saudi Arabia, the Arab-Indian …

Utilizing whole-exome sequencing to characterize the phenotypic variability of sickle cell disease

A Alsultan, AM Al-Suliman, A Aleem… - Genetic Testing and …, 2018 - liebertpub.com
Background: Sickle cell disease (SCD) is a monogenic disease that has wide variety of
phenotypes with both and environmental factors contributing to its severity. Methods: We …

Existence of HbF Enhancer Haplotypes at HBS1L-MYB Intergenic Region in Transfusion‐Dependent Saudi β‐Thalassemia Patients

C Cyrus, C Vatte, JF Borgio… - BioMed Research …, 2017 - Wiley Online Library
Background and Objectives. β‐Thalassemia and sickle cell disease are genetic disorders
characterized by reduced and abnormal β‐globin chain production, respectively. The …

Sickle cell disease in the era of precision medicine: looking to the future

MH Steinberg, S Kumar, GJ Murphy… - Expert review of …, 2019 - Taylor & Francis
Introduction: Sickle cell anemia is a Mendelian disease that is noted for the heterogeneity of
its clinical expression. Because of this, providing an accurate prognosis has been a longtime …

miRNA Expression Associated with HbF in Saudi Sickle Cell Anemia

C Cyrus, C Vatte, A Al-Nafie, S Chathoth, MS Akhtar… - Medicina, 2022 - mdpi.com
Background and Objectives: Sickle cell anemia (SCA) is a hereditary monogenic disease
due to a single β-globin gene mutation that codes for the production of sickle hemoglobin. Its …

ANTXR1 Intronic Variants Are Associated with Fetal Hemoglobin in the Arab-Indian Haplotype of Sickle Cell Disease

ZA Al-Ali, RK Fallatah, EA Aljaffer, ER Albukhari… - Acta …, 2018 - karger.com
Disease severity of sickle cell anemia is highly variable, and it is commonly accepted that
fetal hemoglobin (HbF) levels play a major role as an ameliorating factor. Investigation of …