Hemoglobinopathies and Related Disorders

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Quantitative Facial Phenotyping and Age-Associated Differences in Sickle Cell Disease Using Interpretable Machine Learning
medRxiv · 16 Oct 2026 · Preprint
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https://jclub.com.au/a/10.64898/2026.03.03.26346563
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Expression of specific var gene subtypes is associated with distinct severe malaria syndromes
medRxiv · 9 Oct 2026 · Preprint
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https://jclub.com.au/a/10.64898/2026.02.02.26345432
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Sickle cell haemoglobin status shapes malaria parasite genotype in asymptomatic infections.
Nature Microbiology · 8 Oct 2026 · Journal Article
Heterozygous HbS is strongly associated with parasites carrying Pfsa+ alleles in asymptomatic P. falciparum infections, indicating a selective advantage for these alleles in HbS carriers.
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Paralogous mutations in the Plasmodium falciparum surface anion channel associate with reduced protection due to sickle hemoglobin.
Cell Reports · 6 Oct 2026 · Journal Article
Mutations in Plasmodium falciparum's CLAG3 paralogs are linked to a 50% reduction in sickle hemoglobin's protective effect against malaria.
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https://jclub.com.au/a/42842370
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Reactivation of the embryonic ζ-globin gene ameliorates severe forms of α-thalassemia.
Nature Genetics · 1 Oct 2026 · Journal Article
Reactivating the silenced embryonic ζ-globin gene in mice and human cells can produce therapeutic levels of α-like globin, rescuing severe α-thalassemia conditions.
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https://jclub.com.au/a/42823531
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Human genetics implicates a BACH2-NRF2 axis in fetal haemoglobin activation.
Nature · 30 Sept 2026 · Journal Article
A BACH2-NRF2 regulatory axis is identified as a key modulator of fetal hemoglobin activation, with a specific variant reducing BACH2 expression to increase HbF levels.
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https://jclub.com.au/a/42816612
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Cord blood-based neonatal genetic screening for thalassemia in Guiyang, China (2015): a cross-sectional study.
Frontiers in Genetics · 24 Sept 2026 · Journal Article
Neonatal cord blood screening in Guiyang, China, found a 7.4% thalassemia carrier rate, with α-thalassemia being most common among 1,000 neonates.
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https://jclub.com.au/a/42846697
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The CYB5R3 T117S missense variant is associated with attenuated riociguat efficacy in sickle cell disease.
Blood · 24 Sept 2026 · Journal Article
The CYB5R3 T117S variant reduces riociguat efficacy by impairing nitric oxide signaling in sickle cell disease patients.
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A Cure Out of Most Patients' Reach - Sickle Cell Disease in the Gene-Therapy Era.
New England Journal of Medicine · 24 Sept 2026 · Journal Article
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Human genetics implicates a BACH2-NRF2 axis in fetal hemoglobin activation
medRxiv · 15 Sept 2026 · Preprint
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https://jclub.com.au/a/10.1101/2023.03.24.23287659
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Proteomic profiling identifies systemic drivers of blood-brain barrier injury in sickle cell disease.
Blood · 10 Sept 2026 · Journal Article
Elevated blood-brain barrier permeability in sickle cell disease correlates with microstructural brain injury, with 79 plasma proteins linked to systemic pathways influencing BBB disruption.
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https://jclub.com.au/a/42126987
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Exa-cel in Children with Transfusion-Dependent β-Thalassemia or Sickle Cell Disease.
New England Journal of Medicine · 10 Sept 2026 · Clinical Trial, Phase III
Exa-cel therapy achieved transfusion independence or absence of severe vaso-occlusive crises in children aged 5 to 11 with transfusion-dependent β-thalassemia or sickle cell disease, respectively, over 16 months.
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Febrile temperature enhances Plasmodium falciparum and neutrophil adhesion by disrupting the endothelial glycocalyx
bioRxiv · 10 Sept 2026 · Preprint
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https://jclub.com.au/a/10.1101/2025.09.07.674757
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Origins of allostery in vertebrate hemoglobin evolution
bioRxiv · 1 Sept 2026 · Preprint
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https://jclub.com.au/a/10.64898/2026.05.25.727495
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