Alpha‐thalassemia. Case report alpha‐thalassemia in a Costa Rican family, A case report [PDF]
Clinical Case Reports, 2021 This case report highlights the importance for health care providers to be aware of the αlpha‐thalassemia syndromes, their relevance to clinical care and family counseling, appropriate diagnostic algorithm for definitive diagnosis.
Mariela Solano‐Vargas +2 more
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Screening of Some Indicators for Alpha-Thalassemia in Fujian Province of Southern China [PDF]
International Journal of General Medicine, 2021 Lin Zheng, Hailong Huang, Xiaoqing Wu, Linjuan Su, Qingmei Shen, Meiying Wang, Na Lin, Liangpu Xu Medical Genetic Diagnosis and Therapy Center of Fujian Maternity and Child Health Hospital, Affiliated Hospital of Fujian Medical University, Fujian Key ...
Zheng L +7 more
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Alpha thalassemia genotypes in Kuwait [PDF]
BMC Medical Genetics, 2020 Background The frequency of the alpha thalassemia trait is approximately 40% in the Kuwaiti population, but there has been no comprehensive study of the prevalent alleles.
Adekunle Adekile +4 more
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An analysis of the distribution and spectrum of alpha thalassemia mutations in Rasht City, North of Iran [PDF]
Frontiers in Pediatrics, 2023 BackgroundAlpha thalassemia is one of the most common hereditary hemoglobin disorders worldwide, particularly in the Middle East, including Iran.
Mona Asghari Ahmadabad +8 more
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Clinical Utility of the Addition of Molecular Genetic Testing to Newborn Screening for Hemoglobinopathies for Confirmation of Alpha-Thalassemia Trait [PDF]
International Journal of Neonatal ScreeningHemoglobinopathies are commonly detected by newborn screening (NBS). One of the most difficult to accurately diagnose is alpha-thalassemia, which is indicated by the presence of hemoglobin (Hb) Barts on NBS.
Lisa M. Shook +2 more
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A comprehensive case study of deep learning on the detection of alpha thalassemia and beta thalassemia using public and private datasets [PDF]
Scientific ReportsThis study explores the performance of deep learning models, specifically Convolutional Neural Networks (CNN) and XGBoost, in predicting alpha and beta thalassemia using both public and private datasets.
Muhammad Umar Nasir +7 more
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Hematological analysis of alpha-thalassemia: A single-center, retrospective clinical study. [PDF]
PLoS ONEObjectivesTo determine the optimal cutoffs of the three indicators (MCV, MCH and HbA2) for alpha-thalassemia screening and to evaluate the validity of these indicators in Fujian Province, China.MethodsWe conducted a retrospective analysis on the results ...
Lin Zheng +7 more
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Genetic Analysis of Alpha-Thalassemia Mutations in Thi-Gar Province, Iraq [PDF]
Archives of Razi Institute, 2022 The prevalence of alpha-thalassemia as a major health problem in the south of Iraq has highlighted the necessity of investigations and screening of patients with thalassemia.
A. H Odah Al-Musawi +2 more
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Third-generation sequencing identified a novel complex variant in a patient with rare alpha-thalassemia [PDF]
BMC PediatricsBackground Thalassemias represent some of the most common monogenic diseases worldwide and are caused by variations in human hemoglobin genes which disrupt the balance of synthesis between the alpha and beta globin chains.
Cong Zhou +5 more
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Alpha thalassemia and alpha-MRE haplotypes in Uruguayan patients with microcytosis and hypochromia without anemia [PDF]
Genetics and Molecular Biology, 2021 Alpha thalassemia is the most common genetic disorder across the world, being the α-3.7 deletion the most frequent mutation. In order to analyze the spectrum and origin of alpha thalassemia mutations in Uruguay, we obtained a sample of 168 unrelated ...
Ana María Soler +7 more
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