Results 41 to 50 of about 28,973 (151)
Turkish Journal of Hematology, 2015 INTRODUCTION: Alpha thalassemia syndromes are caused by mutations on one or more of the four α-globin genes. Mutations could be either more commonly deletional or non-deletional. As some deletions (3.7 and 4.2) cause α+-thalassemia, some cause (
Zeynep Karakaş +11 more
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Alpha globin gene alterations modifying the phenotype of homozygous beta thalassaemia
eJHaemThe phenotype of β‐thalassemia varies widely. The primary determinant is the type of beta‐globin gene mutation; however, there are secondary and tertiary modifiers also as associated alpha mutations, polymorphisms, as well as coinheritance of mutations ...
Jyoti Shaw +7 more
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Journal of Ardabil University of Medical Sciences, 2013 Background: Co-inheritance of hemoglobin gene defects is a rare important status that can lead to double heterozygote or homozygote with significant clinical manifestations. Such conditions can be observed in co-inheritance of alpha-thalassemia with beta-
Najmaddin Saki +8 more
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Zhongguo gonggong weisheng, 2023 Thalassemia is an inherited hemoglobin disorder clinically categorized into alpha and beta thalassemia. Severe beta-thalassemia patients commonly experience anemia during infancy and progressively deteriorate, necessitating long-term blood transfusion to
Jingyi QIAO +6 more
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Alpha- Thalassemia: An Overview
Scholars Journal of Applied Medical Sciences, 2023 Alpha-Thalassemia is the commonest hereditary monogenic disease worldwide. α-thalassemia is caused by α-globin gene losses and categorized into α-thalassemia 1 and α-thalassemia 2 depending on how many α-globin genes are functioning. Α thalassemia 1 is defined by inactivation of both α-globin genes on a chromosome, while in α-thalassemia 2, one gene is
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Impact of genotype on endocrinal complications of Children with Alpha-thalassemia in China
Scientific Reports, 2017 Alpha-thalassemia occurs with high frenquency in China. Four common α-globin gene deletion mutations (–SEA, -α3.7, and -α4.2, Haemoglobin Constant Spring (CS) mutation) were identified in Chinese patients.
Hong-Cheng Luo +4 more
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Hematology Reports, 2019 Beta thalassemia is a hereditary disorder resulted from mutations in the β globin gene leading to alpha/beta imbalance, ineffective erythropoiesis, and chronic anemia.
Jianhong Xie +5 more
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Deletional Alpha-Thalassemia Alleles in Amazon Blood Donors
Advances in Hematology, 2020 Alpha-thalassemia is highly prevalent in the plural society of Brazil and is a public health problem. There is limited knowledge on its accurate frequency and distribution in the Amazon region.
Fernanda Cozendey Anselmo +7 more
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Thrombocytosis in a Patient with Alpha Thalassemia Trait [PDF]
Laboratory Medicine, 2015 Clinical History Patient A 25-year-old woman of Chinese, Portuguese, and Filipino ancestry. Chief Complaint The patient has been referred for a hematology consultation because of marked thrombocytosis levels that had been incidentally detected during routine testing performed as part of a physical examination that is a prerequisite for gamete ...
Sara, Taylor +2 more
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Molecular and Hematological Characterization of α-Thalassemia in Denizli Province
Acta Haematologica Oncologica TurcicaAim: Alpha thalassemia, a common monogenic disorder, occurs with defective synthesis of the α-globin chain and has a very wide clinical spectrum depending on the disorders in the globin genes.
Derya Karaer +3 more
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