Article
Pediatrics
Ilaria Fotzi, Francesco Pegoraro, Elena Chiocca, Tommaso Casini, Massimo Mogni, Marinella Veltroni, Claudio Favre
Summary: ε γ δ β thalassemia is a rare form of beta-thalassemia, mostly seen in children from Northern Europe. This case report describes a newborn from Italy who presented with severe neonatal anemia and required red blood cell transfusion. After excluding other red blood cell disorders, the diagnosis of ε γ δ β thalassemia was made based on microarray analysis showing a 26 kb single copy loss of chromosome 11p15.4.
FRONTIERS IN PEDIATRICS
(2022)
Article
Oncology
Ebru Yilmaz Keskin, Oznur Acar, Halil Ozbas
Summary: This report discusses a case of an infant with beta-thalassemia major, whose mother's beta-thalassemia trait was previously missed twice due to an accompanying delta-globin mutation, resulting in a borderline HbA(2) level. Therefore, in the diagnosis of beta-thalassemia trait, consideration should be given to compound heterozygosity for delta-globin mutation and beta-thalassemia mutation.
JOURNAL OF PEDIATRIC HEMATOLOGY ONCOLOGY
(2021)
Article
Biochemistry & Molecular Biology
Nelson C. N. Chan, Terry H. Y. Wong, Kelvin C. K. Cheng, Natalie P. H. Chan, Margaret H. L. Ng
Summary: This study provides insights into the causes of reduced Hb A(2) levels and identifies hereditary disorders of alpha- and delta-globin genes as the prevailing causes. The study also establishes the prevalence and distribution of HBD variants in the local population and highlights the challenges of phenotypic screening for beta-thalassemia carriers.
Review
Biotechnology & Applied Microbiology
Stacy Colaco, Anita Nadkarni
Summary: There is inconsistency in the exact definition of diagnostic levels of HbA(2) for beta thalassemia trait. Among individuals with borderline HbA(2) levels, 35.4% carry a molecular defect, highlighting the importance of a comprehensive molecular work up for accurate diagnosis of borderline HbA(2) beta thalassemia carriers.
MUTATION RESEARCH-REVIEWS IN MUTATION RESEARCH
(2021)
Review
Biochemistry & Molecular Biology
Anna Gluba-Brzozka, Beata Franczyk, Magdalena Rysz-Gorzynska, Robert Rokicki, Malgorzata Koziarska-Rosciszewska, Jacek Rysz
Summary: Thalassemia is a chronic disease caused by mutations in the beta-globin gene, leading to chronic anemia. Patients with beta-thalassemia display variable clinical severity and enhanced susceptibility to infections due to immune deficiency caused by the disease itself and therapies. Immune deficiency in beta-thalassemia patients is associated with various biological processes, including abnormalities in innate immune system components.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2021)
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
Oncology
Mana Tomiyama, Saki Takayama, Hiroko Konno, Takeshi Murakoshi, Masafumi Koga, Momoko Nakamura, Yasuhiro Yamashiro, Tadashi Matsubayashi
Summary: This article describes two cases, one of which involves a baby who received a blood transfusion during gestation and spontaneously improved from anemia in early infancy. The second case involves the father of the baby, who had no evidence of anemia at birth but developed microcytic anemia during childhood. Genetic analysis identified a novel heterozygous deletion in the beta-globin gene cluster, confirming a diagnosis of (G)gamma(A)gamma delta beta)(0)-thalassemia. A genetic diagnosis should be performed in suspected cases of thalassemia for the sake of the offspring.
PEDIATRIC BLOOD & CANCER
(2023)
Article
Biology
Christos Kattamis, Myrto Skafida, Polyxeni Delaporta, Christina Vrettou, Joanne Traeger-Synodinos, Christalena Sofocleous, Antonis Kattamis
Summary: The Corfu delta(0)beta(+) thalassemic allele, found only in individuals of Greek origin, is a unique combination of a deletion in the delta-globin gene and a single nucleotide variant in the beta-globin gene. It is detected in 1-2% of beta-thalassemia carriers and presents a distinct hematological phenotype. This study aims to determine the prevalence of the Corfu delta(0)beta(+) allele and evaluate its hematological phenotype compared to other thalassemia variants in Greece.
Article
Medicine, General & Internal
Reem Aldwaik, Tamara Abu Mohor, Israa Idyabi, Salam Warasna, Shatha Abdeen, Bashar Karmi, Rania Abu Seir
Summary: Management of beta-thalassemia in the West Bank presents challenges due to the lack of available therapies, leading to recurrent transfusions. Characteristics of patients include anemia, iron overload, and abnormal liver function tests. Iron chelation medication choice is associated with serum ferritin levels, highlighting the need for personalized assessment and follow-up protocols.
FRONTIERS IN MEDICINE
(2021)
Article
Oncology
Hou Qian, Weifeng Li, Xiuhua Lin, Ji Xu, Xiaoli Zhang, Weihua Zhao, Yike Wu, Wenlan Liu
Summary: A 15-year-old girl with severe thalassemia intermedia was found to have a compound heterozygous state of Chinese (G)gamma(+)((A)gamma delta beta)(0)/beta(CD17)-thalassemia combined with a -(SEA) deletion. Molecular analysis revealed that the proband inherited the mutations from her mother and father, with the father carrying a HBB heterozygous mutation and the mother being a double heterozygous carrier of the Chinese (G)gamma(+)((A)gamma delta beta)(0)-thalassemia mutation combined with a -(SEA) deletion. The proband experienced a worsening of clinical symptoms, from no obvious clinical symptoms to severe anemia and splenomegaly, and became dependent on monthly blood transfusions.
MOLECULAR MEDICINE REPORTS
(2023)
Article
Energy & Fuels
Emmanuel Aniwetalu, Emmanuel Anakwuba, Juliet Ilechukwu
Summary: This study utilized an empirical approach to estimate the velocity anisotropy in the study area, with results indicating higher anisotropy values in shale beds compared to sandstone beds. Three distinct velocity gradients were identified, suggesting the need to derive correction factors for individual wells to improve exploration success.
JOURNAL OF PETROLEUM EXPLORATION AND PRODUCTION TECHNOLOGY
(2021)
Article
Pediatrics
Yetti Hernaningsih, Yuli Syafitri, Yulia Nadar Indrasari, Prafa Alif Rahmawan, Mia Ratwita Andarsini, Indra Lesmana, Emmanuel Jairaj Moses, Nur Arzuar Abdul Rahim, Narazah Mohd Yusoff
Summary: Limited studies in East Java, Indonesia have shown a diverse range of genetic variations among thalassemia patients, with 12 different variants identified. The most common variant found was beta(CD26)/beta(IVS-I-5).
FRONTIERS IN PEDIATRICS
(2022)
Article
Medical Laboratory Technology
Meihuan Chen, Min Zhang, Lingji Chen, Na Lin, Yan Wang, Liangpu Xu, Hailong Huang
Summary: The prevalence of common beta-globin gene cluster deletions in Fujian Province was 0.04%, with the most common deletions being Chinese (G)gamma((A)gamma delta beta)(0) and SEA-HPFH.
JOURNAL OF CLINICAL LABORATORY ANALYSIS
(2022)
Review
Medicine, General & Internal
Maria Sanchez-Villalobos, Miguel Blanquer, Jose M. Moraleda, Eduardo J. Salido, Ana B. Perez-Oliva
Summary: In this article, the main pathophysiological pathways involved in beta-thalassemia are reviewed, with a focus on the development of new therapies directed at new therapeutic targets.
FRONTIERS IN MEDICINE
(2022)
Article
Medicine, Research & Experimental
Hamad Ali, Faisal Khan, Syed Ghulam Musharraf
Summary: The study suggests the repurposing of cilostazol as a promising inducer of fetal hemoglobin production, showing increased expression of gamma-globin mRNA transcripts and HbF in vitro and in vivo without significant effects on cell proliferation and viability. These findings support further evaluation of cilostazol as a potential HbF inducer.
BIOMEDICINE & PHARMACOTHERAPY
(2021)
Article
Oncology
Theodoros P. Vassilakopoulos, Fotios Panitsas, Zois Mellios, John Apostolidis, Michalis Michael, Ronit Gurion, Burhan Ferhanoglu, Eleftheria Hatzimichael, Stamatios Karakatsanis, Maria Dimou, Christina Kalpadakis, Eirini Katodritou, Theoni Leonidopoulou, Ioannis Kotsianidis, Hara Giatra, Nick Kanellias, Ayman Sayyed, Tamar Tadmor, Olga Meltem Akay, Maria K. Angelopoulou, Netanel Horowitz, Maria Bakiri, Gerassimos A. Pangalis, Panayiotis Panayiotidis, Sotirios G. Papageorgiou
Summary: Central nervous system (CNS) involvement is rare in primary mediastinal large B-cell lymphoma (PMLBCL). Kidney and/or adrenal involvement is strongly associated with CNS relapse. Chemotherapy regimen and established prognostic factors do not predict CNS relapse in PMLBCL. CNS relapse as a first event occurs rarely in PMLBCL.
HEMATOLOGICAL ONCOLOGY
(2023)
Article
Hematology
Enrica Federti, Francesca Vinchi, Iana Iatcenko, Alessandra Ghigo, Alessandro Matte, Serge Cedrick Mbiandjeu Toya, Angela Siciliano, Deborah Chiabrando, Emanuela Tolosano, Steven Zebulon Vance, Veronica Riccardi, Immacolata Andolfo, Manuela Iezzi, Alessia Lamolinara, Achille Iolascon, Lucia De Franceschi
Summary: Cardiomyopathy greatly affects the well-being and survival of patients with 13-thalassemia or transfusion-dependent myelodysplastic syndromes. Recent research has found a connection between Nrf2 activity and iron metabolism. In this study, Nrf2-/- mice developed age-dependent cardiomyopathy characterized by oxidation, degradation of SERCA2A, and iron accumulation. The absence of Nrf2 paradoxically protected against heart iron accumulation when exposed to an iron overload diet. The activation of the unfolded protein response system and cardiac fibrosis were observed in a model of 13-thalassemia independent of heart iron content. These findings provide insights into potential early treatment for cardiomyopathy in patients with 13-thalassemia.
Article
Oncology
Konstantinos Liapis, Vasileios Papadopoulos, Charalambos Pontikoglou, George Vrachiolias, Emily Stavroulaki, Alexandra Kourakli, Vasileios Lazaris, Athanasios G. Galanopoulos, Menelaos Papoutselis, Sotirios G. Papageorgiou, Panagiotis T. Diamantopoulos, Vassiliki Pappa, Nora-Athina Viniou, Dimitris Tsokanas, Theodoros P. Vassilakopoulos, Eleftheria Hatzimichael, Eleni Bouronikou, Maria Ximeri, Aekaterini Megalakaki, Panagiotis Zikos, Panayiotis Panayiotidis, Maria Dimou, Stamatis Karakatsanis, Maria Papaioannou, Stavros Papadakis, Anna Vardi, Flora Kontopidou, Nikolaos Harchalakis, Ioannis Adamopoulos, Argiris Symeonidis, Helen A. Papadaki, Ioannis Kotsianidis
Article
Clinical Neurology
Chrisoula Kartanou, Maria Seferiadi, Stella Pomoni, Constantin Potagas, Chrystalena Sofocleous, Joanne Traeger-Synodinos, Leonidas Stefanis, Marios Panas, Georgios Koutsis, Georgia Karadima
Summary: This study investigates the frequency, genotypic and phenotypic profile of FXTAS in two cohorts of Greek patients with late-onset movement disorders and suggests that FXTAS is an important, albeit rare, cause of late-onset movement disorders. It highlights the importance of FMR1 genetic testing in the diagnosis of late-onset movement disorders.
PARKINSONISM & RELATED DISORDERS
(2023)
Article
Genetics & Heredity
Alessandro De Falco, Daniele De Brasi, Matteo Della Monica, Claudia Cesario, Stefano Petrocchi, Antonio Novelli, Giuseppe D'Alterio, Achille Iolascon, Mario Capasso, Carmelo Piscopo
Summary: Cornelia de Lange Syndrome (CdLS) is a rare genetic disorder that affects multiple organs. This study presents clinical and genetic findings of a patient with CdLS type 4, a syndrome that has been rarely described before. The patient exhibited previously reported clinical features of CdLS type 4 as well as additional symptoms not mentioned previously. The novel genetic variant found in this patient suggests its pathogenicity. This report provides valuable insights for counseling future CdLS type 4 cases.
Article
Hematology
Immacolata Andolfo, Vittoria Monaco, Flora Cozzolino, Barbara Eleni Rosato, Roberta Marra, Vincenza Cerbone, Valeria Maria Pinto, Gian Luca Forni, Sule Unal, Achille Iolascon, Maria Monti, Roberta Russo
Article
Genetics & Heredity
Faidon-Nikolaos Tilemis, Nikolaos M. M. Marinakis, Konstantina Kosma, Florentia Fostira, Joanne Traeger-Synodinos
Summary: Non-syndromic polydactyly is associated with pathogenic variants in IQCE gene, and this case report identifies a pathogenic IQCE variant and a large deletion involving IQCE gene using whole-exome sequencing. The IQCE gene codes for a protein that positively regulates the Hedgehog signaling pathway at the base of the primary cilia. This study highlights the importance of using ExomeDepth in routine WES analysis for diagnosing rare genetic diseases.
MOLECULAR SYNDROMOLOGY
(2023)
Letter
Hematology
Panagiotis T. Diamantopoulos, Elena Solomou, Argiris Symeonidis, Vasiliki Pappa, Ioannis Kotsianidis, Athanasios Galanopoulos, Charalampos Pontikoglou, Achilles Anagnostopoulos, George Vassilopoulos, Panagiotis Zikos, Eleftheria Hatzimichael, Maria Papaioannou, Aekaterini Megalakaki, Theodoros Vassilakopoulos, Maria Dimou, Dimitrios Tsokanas, Menelaos-Konstantinos Papoutselis, Sotirios Papageorgiou, Alexandra Kourakli, Helen Papadaki, Panayiotis Panayiotidis, Nora-Athina Viniou
AMERICAN JOURNAL OF HEMATOLOGY
(2023)
Letter
Hematology
Valeria Maria Pinto, Roberta Russo, Sabrina Quintino, Barbara Eleni Rosato, Roberta Marra, Federica Del Giudice, Massimo Mogni, Massimo Maffei, Achille Iolascon, Gian Luca Forni, Immacolata Andolfo
Summary: This study provides an overview of the workflow and includes some examples of the achieved results.
AMERICAN JOURNAL OF HEMATOLOGY
(2023)
Editorial Material
Biochemistry & Molecular Biology
Periklis Makrythanasis, Georgia Kakourou, Thalia Mamas, Christina Vrettou, Jan Traeger-Synodinos
EUROPEAN JOURNAL OF HUMAN GENETICS
(2023)
Article
Genetics & Heredity
Alessandro De Falco, Achille Iolascon, Flora Ascione, Carmelo Piscopo
Summary: The use of array comparative genomic hybridization (array-CGH) has identified new microdeletion/microduplication syndromes, including the 9q21.13 microdeletion syndrome. This syndrome involves the loss of a specific genomic region and is associated with developmental delay, intellectual disability, autistic behavior, seizures, facial dysmorphism, myopia, and previously unreported brain anomalies. A study of 28 patients, including our case, allowed for the classification and analysis of candidate genes, as well as the correlation between genotype and phenotype. These findings provide a better understanding of the syndromic spectrum of 9q21.13 microdeletion syndrome and suggest the need for regular ophthalmological and neurological monitoring.
Review
Biology
Vasileios Georgoulis, Alexandra Papoudou-Bai, Alexandros Makis, Panagiotis Kanavaros, Eleftheria Hatzimichael
Summary: Hodgkin lymphoma accounts for 10% of new lymphoma diagnoses and has high cure rates, but new treatments are needed for relapsed cases. Neoplastic cells in the tumor microenvironment interact with immune cells and suppress the host's anti-tumor immunity. This review summarizes the role of different cells in the microenvironment, focusing on macrophages, and discusses how tumor cells evade immune surveillance. Novel therapeutic targets have been identified in this microenvironment, providing personalized treatment options for Hodgkin lymphoma patients.
Article
Genetics & Heredity
Faidon-Nikolaos Tilemis, Nikolaos M. Marinakis, Danai Veltra, Maria Svingou, Kyriaki Kekou, Anastasios Mitrakos, Maria Tzetis, Konstantina Kosma, Periklis Makrythanasis, Joanne Traeger-Synodinos, Christalena Sofocleous
Summary: The integration of whole-exome sequencing (WES) and sensitive bioinformatic tools has enabled the detection of copy number variants (CNVs) in patients with rare diseases (RDs), improving the diagnostic yield of WES.
Review
Medicine, Research & Experimental
Theofilos Kanavos, Effrosyni Birbas, Alexandra Papoudou-Bai, Eleftheria Hatzimichael, Aikaterini Kitsouli, Georgia Karpathiou, Panagiotis Kanavaros
Summary: Primary bone lymphoma (PBL) is a rare form of malignant lymphoid cell tumor that presents with bone lesions without nodal or extranodal involvement. The most common histological type is diffuse large B-cell lymphoma (DLBCL), not otherwise specified (NOS), and it primarily occurs in the femur, humerus, tibia, spine, and pelvis. Diagnosis is often delayed due to non-specific clinical presentation, but can be confirmed through clinical examination, imaging studies, and histopathological and immunohistochemical examination. PBL has a favorable prognosis, especially when treated with combined chemoradiotherapy.
