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Alpha-thalassemia [PDF]

open access: yesDefinitions, 2020
Alpha thalassemia major (ATM) is inherited in an autosomal recessive manner. This means that two non-functioning genes have to be passed to the fetus from each parent, resulting in loss of function of all four alpha globin genes in the fetus. A pregnancy
Alpha Thalassemia, Kevin H.M. Kuo
semanticscholar   +5 more sources

Newborn Screening Practices and Alpha-Thalassemia Detection - United States, 2016. [PDF]

open access: yesMMWR Morb Mortal Wkly Rep, 2020
Alpha-thalassemia comprises a group of inherited disorders in which alpha-hemoglobin chain production is reduced. Depending on the genotype, alpha-thalassemia results in moderate to profound anemia, hemolysis, growth delays, splenomegaly, and increased ...
Bender MA   +10 more
europepmc   +2 more sources

Deletional Alpha-Thalassemia Alleles in Amazon Blood Donors

open access: yesAdvances 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
doaj   +2 more sources

Hematological analysis of alpha-thalassemia: A single-center, retrospective clinical study. [PDF]

open access: yesPLoS ONE
ObjectivesTo 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
doaj   +2 more sources

Genetic Analysis of Alpha-Thalassemia Mutations in Thi-Gar Province, Iraq [PDF]

open access: yesArchives 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
doaj   +2 more sources

Impact of genotype on endocrinal complications of Children with Alpha-thalassemia in China

open access: yesScientific 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
doaj   +2 more sources

Evaluation of Alpha-Thalassemia Mutations in Cases with Hypochromic Microcytic Anemia: The İstanbul Perspective

open access: yesTurkish 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
doaj   +2 more sources

Third-generation sequencing identified a novel complex variant in a patient with rare alpha-thalassemia [PDF]

open access: yesBMC Pediatrics
Background 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
doaj   +2 more sources

Alpha thalassemia and alpha-MRE haplotypes in Uruguayan patients with microcytosis and hypochromia without anemia [PDF]

open access: yesGenetics 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
doaj   +1 more source

Alpha-Thalassemia: Diversity of Clinical Phenotypes and Update on the Treatment

open access: yesThalassemia Reports, 2022
One of the more common single-gene disorders worldwide is α-thalassemia, carriers of which are found at variable frequencies (>1%) across all tropical and subtropical countries.
D. Songdej, S. Fucharoen
semanticscholar   +1 more source

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