Explanipedia

Mean Corpuscular Hemoglobin Modulates HbF/F‐Cell and Clinical Response to Gene Therapy and Hydroxyurea in Sickle Cell Disease Open

Martin H. Steinberg, Abdullah Kutlar, Paola Sebastiani · 2025

FLT1 and other candidate fetal haemoglobin modifying loci in sickle cell disease in African ancestries Open

Ambroise Wonkam, Kevin Esoh, Rachel M. Levine, Valentina Josiane Ngo Bitoungui, Khuthala Mnika , et al. · 2025

Known fetal haemoglobin (HbF)-modulating loci explain 10-24% variation of HbF level in Africans with Sickle Cell Disease (SCD), compared to 50% among Europeans. Here, we report fourteen candidate loci from a genome-wide association study (…

PGC-1α agonism induces fetal hemoglobin and exerts antisickling effects in sickle cell disease Open

Y. Sun, Hajar Benmhammed, Salam Al Abdullatif, Alawi Habara, Eric Fu , et al. · 2024

Sickle cell disease is a growing health burden afflicting millions around the world. Clinical observation and laboratory studies have shown that the severity of sickle cell disease is ameliorated in individuals who have elevated levels of …

Catechol-O-methyltransferase gene (COMT) is associated with neurocognitive functioning in patients with sickle cell disease Open

Andrew M. Heitzer, Sara R. Rashkin, Ana Trpchevska, Jennifer Longoria, Evadnie Rampersaud , et al. · 2023

miRNA Expression Associated with HbF in Saudi Sickle Cell Anemia Open

Cyril Cyrus, Chittibabu Vatte, Awatif Al-Nafie, Shahanas Chathoth, Mohammed Akhtar , et al. · 2022

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 phenotype is modulated by fetal hemoglobin (HbF), a produc…

Fetal hemoglobin modulates neurocognitive performance in sickle cell anemia✰,✰✰ Open

Andrew M. Heitzer, Jennifer Longoria, Evadnie Rampersaud, Sara R. Rashkin, Jeremie H. Estepp , et al. · 2022

Fetal hemoglobin in β hemoglobinopathies: Is enough too much? Open

Martin H. Steinberg · 2022

Cell-based therapies inducing about 40% fetal hemoglobin (HbF), or a HbF-like hemoglobin in most erythrocytes, can—at least in the short-term—effect a cure or near-cure of β hemoglobinopathies, which are humankind's most common Mendelian d…

Pharmacologic induction of PGC‐1α stimulates fetal haemoglobin gene expression Open

Yanan Sun, Alawi Habara, Cuong Quang Le, Nicole Nguyen, Raymon Chen , et al. · 2022

Summary Sickle cell disease (SCD) is a genetic disorder that affects millions around the world. Enhancement of fetal γ‐globin levels and fetal haemoglobin (HbF) production in SCD patients leads to diminished severity of many clinical featu…

Referee report. For: Case Report: β-thalassemia major on the East African coast [version 1; peer review: 1 approved] Open

Martin H. Steinberg · 2022

Strategies to improve pharmacogenomic-guided treatment options for patients with β-hemoglobinopathies Open

George P. Patrinos, David H.K. Chui, Ross C. Hardison, Martin H. Steinberg · 2021

Drug efficacy and toxicity are closely related to the unique genetic profile of individuals, or pharmacogenomics. Despite the fact that cardiology, psychiatry and oncology are among the clinical specialties in which pharmacogenomics has be…

HbA2 induction: the merit of pancellularity in sickle cell disease Open

Martin H. Steinberg · 2021

The British Journal of Haematology publishes original research papers in clinical, laboratory and experimental haematology. The Journal also features annotations, reviews, short reports, images in haematology and Letters to the Editor.

Exome sequencing in high and low fetal haemoglobin Arab–Indian haplotype sickle cell disease Open

Awatif Al-Nafie, Suad Al-Ateeq, Fahad Al‐Muhanna, Ahmed M. Alsulaiman, Mohammed Alfarhan , et al. · 2021

Compared with other common haplotypes of the sickle haemoglobin (HbS) gene, fetal haemoglobin (HbF) levels are highest in the Arab–Indian haplotype. In 619 adult HbS homozygotes, mean HbF was 16·5 ± 7·3%; in 137 additional Arab–Indian hapl…

Sickle cell disease in the Eastern Province of Saudi Arabia: Clinical and laboratory features Open

Amein K. Al‐Ali, Ahmed A. Alsulaiman, Mohammed Alfarhan, Surinder Safaya, Chittibabu Vatte , et al. · 2021

Epicenters of sickle cell disease exist in the Eastern and Southwestern Provinces of Saudi Arabia.1 In the Eastern Province, the sickle hemoglobin gene (HbS; β7glu-val, GAG-GTG) is usually associated with the Arab-Indian (AI) haplotype; in…

CRISPR-Cas9 Gene Editing for Sickle Cell Disease and β-Thalassemia Open

Haydar Frangoul, David Altshuler, Maria Domenica Cappellini, Yi-Shan Chen, Jennifer Domm , et al. · 2020

Transfusion-dependent β-thalassemia (TDT) and sickle cell disease (SCD) are severe monogenic diseases with severe and potentially life-threatening manifestations. BCL11A is a transcription factor that represses γ-globin expression and feta…

Fetal Hemoglobin in Sickle Hemoglobinopathies: High HbF Genotypes and Phenotypes Open

Martin H. Steinberg · 2020

Fetal hemoglobin (HbF) usually consists of 4 to 10% of total hemoglobin in adults of African descent with sickle cell anemia. Rarely, their HbF levels reach more than 30%. High HbF levels are sometimes a result of β-globin gene deletions o…

Fetal hemoglobin in sickle cell anemia Open

Martin H. Steinberg · 2020

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 quantitative trait loci and the geography of β-globin gene ha…

Genomic integrity of human induced pluripotent stem cells across nine studies in the NHLBI NextGen program Open

Kanika Kanchan, Kruthika Iyer, Lisa R. Yanek, Ivan Carcamo‐Orive, Margaret A. Taub , et al. · 2020

Treating sickle cell anemia: A new era dawns Open

Martin H. Steinberg · 2020

A single mutation in the β-hemoglobin gene allows deoxyHbS to polymerize and initiate the complex pathophysiology of sickle cell disease, a hemolytic anemia with chronic complications punctuated by acute events (Figure 1).1, 2 This comment…

Haptoglobin genotype predicts severe acute vaso‐occlusive pain episodes in children with sickle cell anemia Open

Shaina M. Willen, J. Brennan McNeil, Mark Rodeghier, V. Eric Kerchberger, Ciara M. Shaver , et al. · 2020

To the Editor: Chronic hemolysis is a prevalent characteristic of sickle cell anemia that intensifies during times of illness, such as infection, acute chest syndrome (ACS), and vaso-occlusive pain episodes.1 Hemolysis causes the release o…

BCL2L1 is associated with γ-globin gene expression Open

Yan Dai, Elmutaz Shaikho Elhaj Mohammed, Jessica Pérez, Carolyn Wilson, Lesley Y. Liu , et al. · 2019

Key Points BCL2L1 is associated with HbF gene activation.

Primary polymerization prevention Open

Martin H. Steinberg · 2019

In this issue of Blood, Howard et al report a phase 1/2 study of voxelotor (GBT440) in sickle cell anemia.This drug binds to the a-globin chain of hemoglobin and increases hemoglobin-oxygen affinity, thereby decreasing the polymerization t…

Inhibition of LSD1 by small molecule inhibitors stimulates fetal hemoglobin synthesis Open

Cuong Quang Le, Greggory Myers, Alawi Habara, Natee Jearawiriyapaisarn, George J. Murphy , et al. · 2019

TO THE EDITOR: Increased fetal hemoglobin (HbF) leads to diminished severity of sickle cell disease (SCD), as HbF disrupts deoxygenated sickle hemoglobin polymerization.[1][1] Many efforts have been made to identify an effective way to in…

Haemolysis in sickle cell anaemia: effects of polymorphisms in α‐globin gene regulatory elements Open

Jacqueline N. Milton, Elmutaz Shaikho Elhaj Mohammed, Martin H. Steinberg · 2019

α-thalassaemia is a major modulator of sickle cell anaemia. Its effects are mediated by a reduction of mean cellular sickle haemoglobin (HbS) concentration, and hence, reductions in deoxyHbS polymerization and haemolysis. Intravascular hae…

Airlie House legend Open

Martin H. Steinberg, Alan N. Schechter · 2018

In the late 1980’s (probably in 1988), the National Heart, Lung and Blood Institute convened a “think tank” at Airlie House in Northern Virginia to discuss the developmental therapeutic landscape for sickle cell disease. The participants, …

Induced pluripotent stem cell–based mapping of β-globin expression throughout human erythropoietic development Open

Kim Vanuytsel, Taylor Matte, Amy Leung, Zaw Htut Naing, Tasha Morrison , et al. · 2018

Key Points iPSC-derived definitive erythroid cells display a globin expression profile corresponding to yolk sac erythromyeloid progenitors. iPSC-derived erythroblasts resemble their postnatal counterparts in terms of gene expression and e…

Biomarker signatures of sickle cell disease severity Open

Mengtian Du, Sarah Van Ness, Victor R. Gordeuk, Mehdi Nouraie, Sergeï Nekhai , et al. · 2018

Cis- and Trans-Acting Expression Quantitative Trait Loci Differentially Regulate Gamma-Globin Gene Expression Open

Elmutaz Shaikho Elhaj Mohammed, John J. Farrell, David H.K. Chui, Paola Sebastiani, Martin H. Steinberg · 2018

Genetic association studies have detected two trans-acting quantitative trait loci (QTL) on chromosomes 2, 6 and one cis-acting QTL on chromosome 11 that were associated with fetal hemoglobin (HbF) levels. In these studies, HbF was express…

Notch and Aryl Hydrocarbon Receptor Signaling Impact Definitive Hematopoiesis from Human Pluripotent Stem Cells Open

Amy Leung, Elizabeth Zulick, Nicholas Skvir, Kim Vanuytsel, Tasha Morrison , et al. · 2018

Induced pluripotent stem cells (iPSCs) stand to revolutionize the way we study human development, model disease, and eventually, treat patients. However, these cell sources produce progeny that retain embryonic and/or fetal characteristics…

A New Trans-Acting Modulator of Fetal Hemoglobin? Open

Martin H. Steinberg · 2018

Polypeptides of the human hemoglobin (Hb) tetramer are encoded in the β-globin gene cluster on chromosome 11p15.5 and the α-globin gene cluster on chromosome 16p16 ter.From embryonic development, through fetal life, and into adulthood, swi…

A phased SNP-based classification of sickle cell anemia HBB haplotypes Open

Elmutaz Shaikho Elhaj Mohammed, John J. Farrell, Abdulrahman Alsultan, Hatem Qutub, Amein K. Al‐Ali , et al. · 2017

Phased data using only four SNPs allowed unequivocal assignment of a haplotype that was not always possible using a larger number of RFLPs. Given the availability of genome-wide SNP data, our method is rapid and does not require high compu…

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