# Special Issue “Genetic Modifiers of Hemoglobinopathies: Recent Advances and Future Directions”

**Authors:** Carsten W. Lederer, Alex E. Felice, Petros Kountouris

PMC · DOI: 10.3390/ijms27041890 · International Journal of Molecular Sciences · 2026-02-16

## Full-text entities

- **Genes:** SUPT5H (SPT5 homolog, DSIF elongation factor subunit) [NCBI Gene 6829] {aka SPT5, SPT5H, Tat-CT1}, HBG1 (hemoglobin subunit gamma 1) [NCBI Gene 3047] {aka HBG-T2, HBGA, HBGR, HSGGL1, PRO2979}, KRT90P (keratin 90, pseudogene) [NCBI Gene 85340] {aka HBA, KRT124P, KRTHBP1}, APOL1 (apolipoprotein L1) [NCBI Gene 8542] {aka APO-L, APOL, APOL-I, FSGS4}, HBA2 (hemoglobin subunit alpha 2) [NCBI Gene 3040] {aka ECYT7, HBA-T2, HBH}
- **Diseases:** ulcers (MESH:D014456), Osteoporosis (MESH:D010024), ischemic (MESH:D002545), erythroid disorders (MESH:D029503), renal function decline (MESH:D060825), Endocrinopathies (MESH:C567425), coagulation (MESH:D001778), Hemoglobinopathies (MESH:D006453), hypersplenism (MESH:D006971), pain (MESH:D010146), Vaso-Occlusive Crises (MESH:D013224), iron overload (MESH:D019190), albuminuria (MESH:D000419), anemia (MESH:D000740), injury to (MESH:D014947), inflammatory (MESH:D007249), complications (MESH:D008107), sepsis (MESH:D018805), Pulmonary Hypertension (MESH:D006976), asplenia (MESH:D059446), thalassemia (MESH:D013789), GDMs (OMIM:603855), blindness (MESH:D001766), monogenic disorders (MESH:D009358), Acute Pain (MESH:D059787), cardiovascular defects (MESH:D018376), genetic disease (MESH:D030342), retinopathy (MESH:D058437), alpha-thalassemia (MESH:D017085), Stroke (MESH:D020521), SCD (MESH:D000755), Beta Thalassemia (MESH:D017086), vascular complication (MESH:D003925), Gilbert syndrome (MESH:D005878), Nephropathy (MESH:D007674), hemorrhagic (MESH:D006470), splenic sequestration (MESH:D001998)
- **Chemicals:** bilirubin (MESH:D001663), nitric oxide (MESH:D009569), Iron (MESH:D007501)
- **Species:** Homo sapiens (human, species) [taxon 9606]

## Full text

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## References

11 references — full list in the complete paper: https://tomesphere.com/paper/PMC12940410/full.md

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Source: https://tomesphere.com/paper/PMC12940410