Article
Medical Laboratory Technology
Kritsada Singha, Wanicha Tepakhan, Supawadee Yamsri, Attawut Chaibunruang, Hataichanok Srivorakun, Anupong Pansuwan, Goonnapa Fucharoen, Supan Fucharoen
Summary: This study reports the molecular basis and hematological features of deletional high Hb F determinants in Thailand, revealing their prevalence and heterogeneity. The data on the prevalence, molecular spectrum, phenotypic expression, and complex interactions of these genetic determinants should prove useful in the study and prevention and control of hemoglobinopathies in the region.
CLINICA CHIMICA ACTA
(2023)
Article
Hematology
Sarah K. Topfer, Ruopeng Feng, Peng Huang, Lana C. Ly, Gabriella E. Martyn, Gerd A. Blobel, Mitchell J. Weiss, Kate G. R. Quinlan, Merlin Crossley
Summary: This study systematically analyzes the deletions associated with HPFH and 6B-thalassemia, and proposes a unifying mechanism: the deletion of the proximal adult B-globin (HBB) promoter in all cases where fetal globin is upregulated. Experimental results show that mutations reducing HBB promoter activity lead to elevated fetal globin expression.
Article
Genetics & Heredity
Dian Lu, Zhiliang Xu, Zhiyong Peng, Yinghong Yang, Bing Song, Zeyu Xiong, Zhirui Ma, Hongmei Guan, Bangzhu Chen, Yukio Nakamura, Juan Zeng, Nengqing Liu, Xiaofang Sun, Diyu Chen
Summary: This study proposes a novel Cas9/AAV6-mediated genome editing strategy for treating beta-thalassemia. By introducing naturally occurring HPFH mutations and disrupting BCL11A binding sites in HBG1/HBG2 promoters, precise on-target editing and significantly increased gamma-globin expression were observed.
FRONTIERS IN GENETICS
(2022)
Review
Genetics & Heredity
Linlin Xu, Dina Zhu, Yanxia Zhang, Guanxia Liang, Min Liang, Xiaofeng Wei, Xiaoqing Feng, Xuedong Wu, Xuan Shang
Summary: This study corrected the misdiagnosis of a Chinese patient with hereditary hemolytic anemia (HHA) and identified the genetic etiology. The identification of disease-causing genes is crucial for patient treatment, care, and preventing future affected births in the family. Additionally, the study provided insight into distinguishing HHA patients with beta-thalassemia mutations from those with KLF1 mutations.
FRONTIERS IN GENETICS
(2021)
Article
Biology
Nithin Sam Ravi, Beeke Wienert, Stacia K. Wyman, Henry William Bell, Anila George, Gokulnath Mahalingam, Jonathan T. Vu, Kirti Prasad, Bhanu Prasad Bandlamudi, Nivedhitha Devaraju, Vignesh Rajendiran, Nazar Syedbasha, Aswin Anand Pai, Yukio Nakamura, Ryo Kurita, Muthuraman Narayanasamy, Poonkuzhali Balasubramanian, Saravanabhavan Thangavel, Srujan Marepally, Shaji R. Velayudhan, Alok Srivastava, Mark A. DeWitt, Merlin Crossley, Jacob E. Corn, Kumarasamypet M. Mohankumar
Summary: Inspired by naturally occurring point mutations in sickle cell patients, this study used base editing to identify novel regulatory regions in the HBG promoter and successfully upregulated fetal hemoglobin synthesis.
Article
Medicine, General & Internal
Hataichanok Srivorakun, Wachiraporn Thawinan, Goonnapa Fucharoen, Kanokwan Sanchaisuriya, Supan Fucharoen
Summary: Elevated hemoglobin A(2) is an important diagnostic marker for beta-thalassemia carriers, but cases with borderline Hb A(2) pose challenges in diagnosis. A study in Thailand identified various molecular characteristics in subjects with borderline Hb A(2), with alpha- and beta-thalassemia mutations being common findings. The results suggest the need for comprehensive evaluation using Hb A(2), Hb F, and MCV values to guide further molecular analysis and thalassemia screening programs in the region.
ARCHIVES OF MEDICAL SCIENCE
(2022)
Review
Biochemistry & Molecular Biology
Nur Atikah Zakaria, Md Asiful Islam, Wan Zaidah Abdullah, Rosnah Bahar, Abdul Aziz Mohamed Yusoff, Ridhwan Abdul Wahab, Shaharum Shamsuddin, Muhammad Farid Johan
Summary: Beta-thalassemia is a heterogeneous disease with various clinical presentations, where the severity can be predicted by gene expressions such as FLT1, ARG2, NOS2A, and MAP3K5. Treatment response can also be anticipated through NOS2A and MAP3K5 to hydroxyurea. Moreover, factors like antioxidant enzymes and long non-coding RNA play a role in protecting erythrocytes and predicting different phenotypes. Co-inheritance of beta-thalassemia with alpha-thalassemia can ameliorate clinical symptoms.
Article
Multidisciplinary Sciences
Wittaya Jomoui, Sitthichai Panyasai, Pornpun Sripornsawan, Wanicha Tepakhan
Summary: This study characterized α-thalassemia mutations among Hb H disease patients in Thailand and developed a new PCR method for diagnosis. The findings suggest that the common mutation --(SEA) should be included in routine genetic counseling and diagnosis in this region.
SCIENTIFIC REPORTS
(2023)
Article
Genetics & Heredity
Phillip A. Doerfler, Ruopeng Peng, Yichao Li, Lance E. Palmer, Shaina N. Porter, Henry W. Bell, Merlin Crossley, Shondra M. Pruett-Miller, Yong Cheng, Mitchell J. Weiss
Summary: Hereditary persistence of fetal hemoglobin variants activate gamma-globin expression through distinct mechanisms involving transcription factors, providing insights for therapeutic genome editing and gene therapies targeting this element.
Article
Biochemistry & Molecular Biology
Cristina Zuccato, Lucia Carmela Cosenza, Matteo Zurlo, Giulia Breveglieri, Nicoletta Bianchi, Ilaria Lampronti, Jessica Gasparello, Chiara Scapoli, Monica Borgatti, Alessia Finotti, Roberto Gambari
Summary: The human homologue of mouse Ly-1 antibody reactive clone protein (LYAR) is a potential regulator of gamma-globin gene transcription. The LYAR rs368698783 (G > A) polymorphism is present in beta-thalassemia patients and reduces the LYAR binding efficiency to the A gamma-globin gene. This study aimed to stratify beta-thalassemia patients based on the rs368698783 (G > A) polymorphism and investigate their erythroid precursor cells' response to selected HbF inducers in vitro.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2023)
Article
Medicine, Research & Experimental
Vigneshwaran Venkatesan, Abisha Crystal Christopher, Manuel Rhiel, Manoj Kumar K. Azhagiri, Prathibha Babu, Kaivalya Walavalkar, Bharath Saravanan, Geoffroy Andrieux, Sumathi Rangaraj, Saranya Srinivasan, Karthik Karuppusamy, Annlin Jacob, Abhirup Bagchi, Aswin Anand Pai, Yukio Nakamura, Ryo Kurita, Poonkuzhali Balasubramanian, Rekha Pai, Srujan Kumar Marepally, Kumarasamypet Murugesan Mohankumar, Shaji R. Velayudhan, Melanie Boerries, Dimple Notani, Toni Cathomen, Alok Srivastava, Saravanabhavan Thangavel
Summary: Reactivation of fetal hemoglobin is a common strategy for treating β-hemoglobinopathies. This study identified a specific genetic mutation that can effectively inhibit the production of adult hemoglobin and increase fetal hemoglobin production. Gene editing of patient hematopoietic stem cells resulted in therapeutic levels of fetal hemoglobin and improved the phenotypes of both sickle cell disease and β-thalassemia major.
MOLECULAR THERAPY-NUCLEIC ACIDS
(2023)
Review
Medicine, General & Internal
Fangfang Wang, Ling Ling, Duonan Yu
Summary: Beta-thalassemia is a lethal inherited disease that requires regular blood transfusions, but other interventions like iron chelation, stem cell transplantation, and gene therapy have improved quality of life. Certain microRNAs play important roles in regulating globin expression and can potentially serve as biomarkers for diagnosing and predicting outcomes of beta-thalassemia.
AMERICAN JOURNAL OF THE MEDICAL SCIENCES
(2021)
Article
Medicine, General & Internal
Thunwarat Suriyun, Pranee Winichagoon, Suthat Fucharoen, Orapan Sripichai
Summary: This study investigated the characteristics of erythroid maturation in patients with β(0)-thalassemia/HbE and found delayed maturation and impaired mitochondrial clearance. The study also revealed increased transcript levels of BNIP3L and PINK1, genes related to erythroid mitophagy, in erythroblasts of these patients.
JOURNAL OF CLINICAL MEDICINE
(2022)
Article
Genetics & Heredity
Lou Jiwu, Sun Manna, Meixiang Lai, Zhao Ying, Liu Yanhui
Summary: This study identified a homozygous beta(0)-thalassemia mutation in a 36-year-old pregnant woman, who did not show clinical symptoms possibly due to genetic modifiers. During pregnancy, she experienced complications of hyperhaemolysis, indicating disruption of disease state. Raised awareness of hyperhaemolysis is crucial in managing thalassemia patients, especially during pregnancy.
MOLECULAR GENETICS & GENOMIC MEDICINE
(2021)
Article
Multidisciplinary Sciences
Kritsada Singha, Anupong Pansuwan, Mattanee Chewasateanchai, Goonnapa Fucharoen, Supan Fucharoen
Summary: Non-deletional hereditary persistence of fetal hemoglobin (HFPH) is a genetic defect that leads to increased expression of hemoglobin F in adult life. This study in Thailand identified 20 individuals with non-deletional HFPH, characterized by mutations in the (G)& gamma;- and (A)& gamma;-globin genes. It was also found that the identified mutations altered the binding of transcription factors to the γ-globin gene promotors.
SCIENTIFIC REPORTS
(2023)
Letter
Hematology
Saskia Brunner-Agten, Martin Hergersberg, Roberto Herklotz, Andreas Hirt, Andreas R. Huber
ANNALS OF HEMATOLOGY
(2010)
Article
Dermatology
E. Hohenstein, P. L. Rady, M. Hergersberg, A. R. Huber, S. K. Tyring, T. Bregenzer, M. Streit, P. Itin
Article
Biochemistry & Molecular Biology
Martin Hergersberg, Saskia Brunner-Agten, Thomas Kuehne, Michael Paulussen, Andreas R. Huber
Article
Clinical Neurology
Marcelo Miranda, Claudia Castiglioni, Beat M. Frey, Martin Hergersberg, Adrian Danek, Hans H. Jung
MOVEMENT DISORDERS
(2007)
Letter
Oncology
M. Hergersberg, L. Mariani, E. Vassella, C. Murtin, J. Weis, M. Moschopulos, H. Laeng, H. Landolt, A. Huber, U. Roelcke
JOURNAL OF NEURO-ONCOLOGY
(2006)
Article
Ophthalmology
Bojan Pajic, Maike Weigell-Weber, Isaak Schipper, Christoph Kryenbuehl, Ernst R. Buechi, Roland Spiegel, Martin Hergersberg
RETINA-THE JOURNAL OF RETINAL AND VITREOUS DISEASES
(2006)
Article
Biochemistry & Molecular Biology
JM Rentsch, M Hergersberg, D Banville, MW Berchtold
ARCHIVES OF BIOCHEMISTRY AND BIOPHYSICS
(2006)
Letter
Hematology
IB Sedano, B Röthlisberger, G Délèze, C Ottiger, MA Panchard, A Spahr, M Hergersberg, W Bürgi, A Huber
BRITISH JOURNAL OF HAEMATOLOGY
(2004)
Article
Oncology
B Röthlisberger, R Herklotz, M Hergersberg, C Stricker, M Bargetzi, AR Huber
LEUKEMIA & LYMPHOMA
(2004)
Article
Ophthalmology
M Weigell-Weber, GM Sarra, D Kotzot, L Sandkuijl, E Messmer, M Hergersberg
ARCHIVES OF OPHTHALMOLOGY
(2003)
Article
Ophthalmology
GM Sarra, M Weigell-Weber, D Kotzot, G Niemeyer, E Messmer, M Hergersberg
ARCHIVES OF OPHTHALMOLOGY
(2003)
Article
Hematology
HH Jung, M Hergersberg, M Vogt, J Pahnke, V Treyer, B Röthlisberger, SS Kollias, D Russo, BM Frey
Article
Ophthalmology
G Rudolph, P Kalpadakis, T Bettecken, P Lichtner, C Haritoglou, M Hergersberg, T Meitinger, H Schmidt
AMERICAN JOURNAL OF OPHTHALMOLOGY
(2003)
Article
Endocrinology & Metabolism
X Schneider-Yin, M Hergersberg, MM Schuurmans, A Gregor, EI Minder
JOURNAL OF INHERITED METABOLIC DISEASE
(2004)
Article
Hematology
Fanbi Meng, Shuang Chen, Chunliang Liu, Muhammad Shoaib Khan, Yan Yan, Jun Wan, Yue Xia, Chenglin Sun, Mengnan Yang, Renping Hu, Kesheng Dai
Summary: PKC plays a critical role in regulating megakaryocyte development and platelet production in thrombocytopenia. The inhibition of PKC activation delays and reduces radiation-induced megakaryocyte apoptosis, leading to improved platelet count recovery. This study provides a potential therapeutic target for treating thrombocytopenia.
BLOOD CELLS MOLECULES AND DISEASES
(2024)
Article
Hematology
Xia Chen, Fang Liu, Yuanyuan Ren, Luyang Zhang, Yang Wan, Wenyu Yang, Xiaojuan Chen, Li Zhang, Yao Zou, Yumei Chen, Xiaofan Zhu, Ye Guo
Summary: Unrelated umbilical cord blood transplantation (UCBT) is an effective alternative treatment for pediatric patients with bone marrow failure. The use of the TBI/BU + FLU + CY conditioning regimen ensures a high engraftment rate for UCBT and overcomes the challenge of graft failure. Secondary salvage use of cord blood transplantation may still be useful for patients who have failed after other transplantation.
BLOOD CELLS MOLECULES AND DISEASES
(2024)
Article
Hematology
Chithra D. Palani, Xingguo Zhu, Manickam Alagar, Otis C. Attucks, Betty S. Pace
Summary: This study evaluated the ability of a novel Bach1 inhibitor, HPP-D, to induce HbF in KU812 cells and primary sickle erythroid progenitors. The results showed that HPP-D increased HbF levels and decreased Bach1 protein levels in both cell types. Furthermore, it enhanced NRF2 binding to the gamma-globin promoter antioxidant response elements, leading to an open chromatin configuration and increased gamma-globin transcription.
BLOOD CELLS MOLECULES AND DISEASES
(2024)
Letter
Hematology
Marcos Borato Viana, Erica Louback Oliveira, Andre Rolim Belisario
BLOOD CELLS MOLECULES AND DISEASES
(2024)
Article
Hematology
Ke Zhang, Longying Ye, Yanhui Jin, Yuan Chen, Shuting Jiang, Haixiao Xie, Lihong Yang, Mingshan Wang
Summary: This study investigated two pedigrees with FV deficiency and identified three mutations that may have deleterious effects on the function and structure of FV.
BLOOD CELLS MOLECULES AND DISEASES
(2024)