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Thalass. Rep., Volume 13, Issue 2 (June 2023) – 5 articles

Cover Story (view full-size image): Severe Aplastic Anaemia (SAA) is a rare benign disease but carries a high mortality rate unless treated in a specialised centre. Overwhelming laboratory and clinical evidence points to an autoimmune pathogenesis; however, the aetiology remains obscure in the majority of cases. The differential diagnosis in older patients is problematical, and a diagnosis of hypoplastic myelodysplasia remains difficult. This review points out the difficulty in diagnosis without a specific test. Future research needs to define a specific diagnostic test and refine therapeutic interventions. View this paper
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8 pages, 789 KiB  
Review
The Benign Clone Causing Aplastic Anaemia
by Shaun R. McCann and Andrea Piccin
Thalass. Rep. 2023, 13(2), 157-164; https://doi.org/10.3390/thalassrep13020015 - 12 Jun 2023
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Abstract
Severe Aplastic Anaemia (SAA) is a rare benign disease but carries a high-mortality rate unless treated in a specialised centre. Overwhelming laboratory and clinical evidence points to an autoimmune pathogenesis; although, the aetiology remains obscure in the majority of cases. The differential diagnosis [...] Read more.
Severe Aplastic Anaemia (SAA) is a rare benign disease but carries a high-mortality rate unless treated in a specialised centre. Overwhelming laboratory and clinical evidence points to an autoimmune pathogenesis; although, the aetiology remains obscure in the majority of cases. The differential diagnosis in older patients is problematical and a diagnosis of hypoplastic myelodysplasia remains difficult. This review points out the difficulty in diagnosis without a specific test. Future research needs to define a specific diagnostic test and refine therapeutic interventions. Full article
(This article belongs to the Special Issue Thalassemia Syndromes as a Benign Cancer of Hematopoietic Stem Cells)
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5 pages, 458 KiB  
Case Report
HbAdrian (α1:c.251del, p.Leu84Argfs*19)—A Novel Pathogenic Variant in the α1-Globin Gene Associated with Microcytosis from the North of Iran
by Hossein Jalali, Hossein Karami, Mahan Mahdavi and Mohammad Reza Mahdavi
Thalass. Rep. 2023, 13(2), 152-156; https://doi.org/10.3390/thalassrep13020014 - 01 Jun 2023
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Abstract
Background: Alpha thalassemia is one of the most common human genetic abnormalities. More than 400 different variations of the α-globin protein have been introduced, most of which are not associated with noticeable clinical manifestations. The identification of all variants of Hb in different [...] Read more.
Background: Alpha thalassemia is one of the most common human genetic abnormalities. More than 400 different variations of the α-globin protein have been introduced, most of which are not associated with noticeable clinical manifestations. The identification of all variants of Hb in different regions helps in acquiring comprehensive knowledge concerning thalassemia disease, and it can be used in preventive programs as well as prenatal diagnosis (PND). Aims: In the present study, we describe a new α1 gene mutation that leads to a frameshift after codon 83. Methods: As a plan for a national screening program of thalassemia, routine cell blood count (CBC) and Hb capillary electrophoresis tests were applied. After taking written informed consent, genomic DNA was extracted, and, for identifying common Mediterranean α-Globin gene deletion, multiplex Gap-PCR was performed; for detecting other mutations on α- and β-Globin genes, a DNA sequencing method was used. Results: The results of CBC and capillary electrophoresis tests showed microcytosis in a female subject. The sequencing of the α-Globin gene showed that the case is heterozygote for a single-nucleotide deletion at codon 83 of the α1-Globin Gene. We named this mutation Hb Adrian (α1: c.251–T), which is a novel mutation. The mentioned mutation was also detected in the subject’s mother. Conclusions: The introduced mutation (Hb Adrian) leads to a frameshift change that produces a protein with 100 amino acids, which in comparison to a normal α-chain is shorter, and its amino acids are altered after codon 83. This hemoglobin is undetectable via the use of electrophoresis. Although no major hematological abnormalities were observed in the carriers, Hb Adrian should be considered in screening programs to help prevent Hb H disease in high-risk couples. Full article
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8 pages, 707 KiB  
Perspective
What Is the Relevance of Murburn Concept in Thalassemia and Respiratory Diseases?
by Kelath Murali Manoj
Thalass. Rep. 2023, 13(2), 144-151; https://doi.org/10.3390/thalassrep13020013 - 12 May 2023
Viewed by 1964
Abstract
Murburn concept is a novel perspective for understanding cellular function, deeming cells as simple chemical engines (SCE) that are powered by redox reactions initiated by effective charge separation (ECS). The 1-electron active diffusible reactive (oxygen) species, or DR(O)S, equilibriums involved in these processes [...] Read more.
Murburn concept is a novel perspective for understanding cellular function, deeming cells as simple chemical engines (SCE) that are powered by redox reactions initiated by effective charge separation (ECS). The 1-electron active diffusible reactive (oxygen) species, or DR(O)S, equilibriums involved in these processes are also crucial for homeostasis, coherently networking cells, and rendering electromechanical functions of sensing and responding to stimuli. This perspective presents the true physiological function of oxygen, which is to enable ECS and the generation of DR(O)S. Therefore, DR(O)S must now to be seen as the quintessential elixir of life, although they might have undesired effects (i.e., the traditionally perceived oxidative stress) when present in the wrong amounts, places and times. We also elaborated that tetrameric hemoglobin (Hb) is actually an ATP-synthesizing murzyme (an enzyme working via murburn concept) and postulated that several post-translational modifications (such as glycation) on Hb could result from murburn activity. Murburn perspective has also enabled the establishment of a facile rationale explaining the sustenance of erythrocytes for 3–4 months, despite their lacking nucleus or mitochondria (to coordinate their various functions and mass-produce ATP, respectively). Although thalassemia has its roots in genetic causation, the new awareness of the mechanistic roles of oxygen-hemoglobin-erythrocyte trio significantly impacts our approaches to interpreting research data and devising therapies for this malady. These insights are also relevant in other clinical manifestations that involve respiratory distress (such as asthma, lung cancer, COVID-19 and pneumonia) and mitochondrial diseases. Herein, these contexts and developments are briefly discussed. Full article
(This article belongs to the Special Issue Thalassemia Syndromes in Developing Countries: Has Anything Changed?)
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13 pages, 1385 KiB  
Article
Spectrum of Thalassemia and Hemoglobinopathy Using Capillary Zone Electrophoresis: A Facility-Based Single Centred Study at icddr,b in Bangladesh
by Anamul Hasan, Jigishu Ahmed, Bikash Chandra Chanda, Maisha Aniqua, Raisa Akther, Palash Kanti Dhar, Kazi Afrin Binta Hasan, Abdur Rouf Siddique, Md. Zahidul Islam, Sharmine Zaman Urmee and Dinesh Mondal
Thalass. Rep. 2023, 13(2), 131-143; https://doi.org/10.3390/thalassrep13020012 - 10 May 2023
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Abstract
Background: Although the global thalassemia zone covers Bangladesh, there are very limited studies conducted in this region. Therefore, the focus of our study is to understand the prevalence and burden of thalassemia and hemoglobinopathy in Bangladesh. Methods: The analysis was based on a [...] Read more.
Background: Although the global thalassemia zone covers Bangladesh, there are very limited studies conducted in this region. Therefore, the focus of our study is to understand the prevalence and burden of thalassemia and hemoglobinopathy in Bangladesh. Methods: The analysis was based on a retrospective evaluation of laboratory diagnoses between 2007 January and 2021 October. A total of 8503 specimens were sampled and analyzed which were either referred by corresponding physicians or self-referred. This was neither any epidemiological nationwide survey nor was the study population chosen randomly. Hematological data were obtained through capillary zone electrophoresis and corresponding complete blood count. Results: 1971 samples (~23.18% of the total) were found with at least one inherited hemoglobin disorder. The most common hemoglobin disorder observed was the hemoglobin E (Hb E) trait (10.67%), followed by the β-thalassemia trait (8.4%), homozygotic Hb E (1.59%), and Hb E/β-thalassemia (1.58%). Other variants found in this study with minimal percentages were Hb N-Seattle, Hb S, Hb D-Punjab, Hb Lepore, Hb C, Hb Hope, Hb H, and hereditary persistence of fetal hemoglobin. Discussion: The pattern of thalassemia and hemoglobinopathy in our study is diverse and heterogeneous. A broad and detailed spectrum of such inherited hemoglobin disorders will ultimately be helpful in implementing nationwide thalassemia management and strategy policy in Bangladesh. Full article
(This article belongs to the Special Issue Thalassemia Syndromes in Developing Countries: Has Anything Changed?)
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9 pages, 268 KiB  
Review
Bone Marrow Transplantation in Nonmalignant Haematological Diseases: What Have We Learned about Thalassemia?
by Luca Castagna, Stefania Tringali, Giuseppe Sapienza, Roberto Bono, Rosario Di Maggio and Aurelio Maggio
Thalass. Rep. 2023, 13(2), 122-130; https://doi.org/10.3390/thalassrep13020011 - 24 Apr 2023
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Abstract
Allogeneic stem cell transplantation remains the only therapy for congenital, severe haemoglobinopathies that is able to reverse the pathological phenotype. In the severe form of thalassemia, regular transfusions are needed early in life. This population of patients could benefit from allo-SCT. However, the [...] Read more.
Allogeneic stem cell transplantation remains the only therapy for congenital, severe haemoglobinopathies that is able to reverse the pathological phenotype. In the severe form of thalassemia, regular transfusions are needed early in life. This population of patients could benefit from allo-SCT. However, the great efficacy of transplantation must be counterbalanced by the mortality and morbidity related to the procedure. In this short review, we reviewed the most recent data in the field of transplantation in transfusion-dependent thalassemia (TDT), highlighting the factors that have a major impact on outcomes. Full article
(This article belongs to the Special Issue Thalassemia Syndromes as a Benign Cancer of Hematopoietic Stem Cells)
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