Alpha-hemoglobin-stabilizing protein (AHSP): a modulatory factor in β-thalassemia

Yaacob, Nur Suraya Che; Islam, Asiful; Alsaleh, Heba; Ibrahim, Ibrahim Khidir; Hassan, Rosline

doi:10.1007/s12185-019-02806-8

Cited by 16 publications

(13 citation statements)

References 61 publications

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“…2 F). However, genes involved in erythrocyte differentiation (GATA1 [ 36 ] and KLF1 [ 37 ]) and hemoglobin assembly and stability (AHSP [ 38 ]) showed lower levels of expression in MDS/sAML patients compared to HCs (Fig. 2 F).…”

Section: Resultsmentioning

confidence: 99%

Single-cell transcriptomics dissects the transcriptome alterations of hematopoietic stem cells in myelodysplastic neoplasms

Zeng,

Wang,

Dai

et al. 2024

J Transl Med

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Background Myelodysplastic neoplasms (MDS) are myeloid neoplasms characterized by disordered differentiation of hematopoietic stem cells and a predisposition to acute myeloid leukemia (AML). The underline pathogenesis remains unclear. Methods In this study, the trajectory of differentiation and mechanisms of leukemic transformation were explored through bioinformatics analysis of single-cell RNA-Seq data from hematopoietic stem and progenitor cells (HSPCs) in MDS patients. Results Among the HSPC clusters, the proportion of common myeloid progenitor (CMP) was the main cell cluster in the patients with excess blasts (EB)/ secondary AML. Cell cycle analysis indicated the CMP of MDS patients were in an active proliferative state. The genes involved in the cell proliferation, such as MAML3 and PLCB1, were up-regulated in MDS CMP. Further validation analysis indicated that the expression levels of MAML3 and PLCB1 in patients with MDS-EB were significantly higher than those without EB. Patients with high expression of PLCB1 had a higher risk of transformation to AML. PLCB1 inhibitor can suppress proliferation, induce cell cycle arrest, and activate apoptosis of leukemic cells in vitro. Conclusion This study revealed the transcriptomic change of HSPCs in MDS patients along the pseudotime and indicated that PLCB1 plays a key role in the transformation of MDS into leukemia.

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Section: Resultsmentioning

confidence: 99%

Single-cell transcriptomics dissects the transcriptome alterations of hematopoietic stem cells in myelodysplastic neoplasms

Zeng,

Wang,

Dai

et al. 2024

J Transl Med

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“…We effectively ablated CNV, which reduced bleeding and exudation, and controlled the disease progression with anti-VEGF drugs. AS formation occurs not only in PXE, but also in other diseases, such as Marfan syndrome, β-thalassemia, and acromegaly [ 11 , 23 ].…”

Section: Discussionmentioning

confidence: 99%

A case report: pseudoxanthoma elasticum diagnosed based on ocular angioid streaks and the curative effect of Conbercept treatment

et al. 2021

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Background This article is a case report of pseudoxanthoma elasticum (PXE) which was diagnosed based on significant angioid streaks (AS) with choroidal neovascularization (CNV) and regain normal visual function by intravitreal injection with Conbercept. Case presentation A 51-year-old woman was referred to the Ophthalmology Department of Qingdao Municipal Hospital (Qingdao, China) on September 14, 2020 for metamorphopsia and loss of vision in the left eye in the preceding three days. Past history: high myopia for more than 30 years, best corrected visual acuity (BCVA) of both eyes was 1.0 (5 m Standard Logarithm Visual Acuity chart in decimal notations), hypertension for six years, and cerebral infarction two years ago, no history of ocular trauma or surgeries or similar patients in family was documented. We used methods for observation, including fundus examination, optical coherence tomography (OCT), fluorescein angiography combined with indocyanine green angiography (FFA + ICGA). Due to her symptoms and manifestations, along with the appearance of her neck skin, which resembled ‘chicken skin’, we speculated that she should be further examined at the Department of Dermatology by tissue paraffin section and molecular pathology analyses, and the diagnosis of PXE was then confirmed. After intravitreal injection with Conbercept (10 mg/ml, 0.2 ml, Chengdu Kanghong Biotechnologies Co., Ltd.; Chengdu, Sichuan, China) she regained her BCVA. Conclusions This patient regained her best corrected visual acuity through intravitreal injection with Conbercept. To the best of our knowledge, no publications are available on cases in which a vision loss and the normal visual function can be reverted by intravitreal injection with Conbercept. Although PXE is a disease with low incidence and thus no effective cure established, targeted symptomatic treatment can effectively retard the disease progression and improve visual function, such as intravitreal injection with Conbercept.

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“…45,47 Conversely, when AHSP gene mutations are coinherited in patients with β-thalassemia, α-globin chain instability, and precipitation are exaggerated, worsening the disease. 48,49 Moreover, very rare and unusual cases of α-thalassemia are caused by mutations in the α-thalassemia mental retardation X-linked (ATRX) gene. 50 Affected individuals are characterized by mild to severe intellectual disability and developmental delay in males.…”

Section: Regulation Of the Human α -Globin Locusmentioning

confidence: 99%

“… 45 , 47 Conversely, when AHSP gene mutations are co‐inherited in patients with β‐thalassemia, α‐globin chain instability, and precipitation are exaggerated, worsening the disease. 48 , 49 …”

Section: α‐Thalassemiamentioning

confidence: 99%

Interplay between α‐thalassemia and β‐hemoglobinopathies: Translating genotype–phenotype relationships into therapies

Vadolas,

Nualkaew,

Voon

et al. 2024

HemaSphere

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Abstractα‐Thalassemia represents one of the most important genetic modulators of β‐hemoglobinopathies. During this last decade, the ongoing interest in characterizing genotype–phenotype relationships has yielded incredible insights into α‐globin gene regulation and its impact on β‐hemoglobinopathies. In this review, we provide a holistic update on α‐globin gene expression stemming from DNA to RNA to protein, as well as epigenetic mechanisms that can impact gene expression and potentially influence phenotypic outcomes. Here, we highlight defined α‐globin targeted strategies and rationalize the use of distinct molecular targets based on the restoration of balanced α/β‐like globin chain synthesis. Considering the therapies that either increase β‐globin synthesis or reactivate γ‐globin gene expression, the modulation of α‐globin chains as a disease modifier for β‐hemoglobinopathies still remains largely uncharted in clinical studies.

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Alpha-hemoglobin-stabilizing protein (AHSP): a modulatory factor in β-thalassemia

Cited by 16 publications

References 61 publications

Single-cell transcriptomics dissects the transcriptome alterations of hematopoietic stem cells in myelodysplastic neoplasms

Single-cell transcriptomics dissects the transcriptome alterations of hematopoietic stem cells in myelodysplastic neoplasms

A case report: pseudoxanthoma elasticum diagnosed based on ocular angioid streaks and the curative effect of Conbercept treatment

Interplay between α‐thalassemia and β‐hemoglobinopathies: Translating genotype–phenotype relationships into therapies

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