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 +1 more source
Chronic hyperplastic anemia as an independent risk factor for atherosclerotic lesions: a lesson from thalassemia intermedia [PDF]
Introduction. Cardiovascular involvement represents a well-known complication and the primary cause of mortality, both in transfusion-dependent beta thalassemia major (β-TM) and in transfusion-independent beta thalassemia intermedia (β-TI ...
Alessandra Spiga +7 more
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Nonsense-mediated decay mechanism is a possible modifying factor of clinical outcome in nonsense cd39 beta thalassemia genotype [PDF]
Nonsense-mediated mRNA decay (NMD) is a surveillance system to prevent the synthesis of non-functional proteins. In β-thalassemia, NMD may have a role in clinical outcome.
ATTANASIO, Massimo +11 more
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Alpha globin gene alterations modifying the phenotype of homozygous beta thalassaemia
The 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
doaj +1 more source
Effects of vitamin e and zinc supplementation on antioxidants in beta thalassemia major patients [PDF]
Objective: In beta thalassemic patients, tissue damage occurs due to oxidative stress and it happens because of the accumulation of iron in the body. This study was conducted to determine the effect of zinc and vitamin E supplementation on antioxidant ...
Aboomardani, M. +5 more
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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
doaj
Low prevalence of an acute phase response in asymptomatic children from a malaria-endemic area of Papua New Guinea [PDF]
Levels of C-reactive protein (CRP), a classic marker for the acute phase response (APR), were measured in children with asymptomatic malaria infection in the Amele region of Papua New Guinea (PNG).
Day, KP +6 more
core
Cytoprotective effects of the antioxidant phytochemical indicaxanthin in beta-thalassemia red blood cells [PDF]
Antioxidant phytochemicals are investigated as novel treatments for supportive therapy in b-thalassemia. The dietary indicaxanthin was assessed for its protective effects on human b-thalassemic RBCs submitted in vitro to oxidative haemolysis by cumene ...
Allegra, M. +4 more
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Revealing the molecular signatures of host-pathogen interactions. [PDF]
Advances in sequencing technology and genome-wide association studies are now revealing the complex interactions between hosts and pathogen through genomic variation signatures, which arise from evolutionary co ...
C Herdtweck +53 more
core +13 more sources
Alpha- Thalassemia: An Overview
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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