Results 71 to 80 of about 32,142 (226)

Progress in researches on disease burden and health service utilization of beta-thalassemia patients in China

open access: yesZhongguo 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
doaj   +1 more source

Late Onset Telomere Biology Disorder Presenting With Pancytopenia, Immune Dysregulation, Interstitial Lung Disease and Alopecia

open access: yes
American Journal of Hematology, EarlyView.
Bo A. Wan   +7 more
wiley   +1 more source

Whole Blood Transcriptomic Analysis of Sickle Cell Trait

open access: yesEuropean Journal of Haematology, EarlyView.
ABSTRACT Sickle cell trait (SCT) is the heterozygous carrier state for the HBB missense variant which causes sickle cell disease (SCD). SCT has been associated with increased risk of venous thromboembolism and chronic kidney disease as well as alterations in clinical laboratory parameters. To investigate differential gene expression in SCT, we used RNA
Mari Johnson   +12 more
wiley   +1 more source

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   +1 more source

Rare double heterozygosity for poly A(A>G) and CD17(A>T) of beta thalassemia intermedia in a Chinese family

open access: yesHematology 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
doaj   +1 more source

Quantitative analysis of DNA‐GATA1 binding alterations linked to hematopoietic disorders

open access: yesThe FEBS Journal, EarlyView.
Native holdup allows the quantitative determination of affinities between full‐length transcription factors and DNA. Mutations in either the protein or the DNA can modulate binding strength, which can be precisely quantified using this approach. Applied to GATA1, it revealed mutations that alter DNA binding.
Boglarka Zambo   +6 more
wiley   +1 more source

Novel deletions and unusual genetic mechanisms underlying alpha-thalassemia [PDF]

open access: yes, 2016
Hemoglobin (Hb) is a protein responsible for oxygen transportation from lungs to the entire body. It is composed by four globular subunits - the globins - each with a central core containing a heme molecule.
Batalha-Reis, Ana   +16 more
core  

Common Hematologic Emergencies—Acute Promyelocytic Leukemia and Microangiopathic Hemolytic Anemias—A Pivotal Role of Clinical Laboratory

open access: yesInternational Journal of Laboratory Hematology, EarlyView.
ABSTRACT Hematologic emergencies are urgent health conditions which result in significant mortality and morbidity unless timely therapeutic measures are taken. Therapeutic success depends on their timely and accurate recognition by hematology laboratory services.
Ganna Shestakova   +2 more
wiley   +1 more source

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   +1 more source

Persistent Hyperglycaemia and Transient Dysglycaemia in Tuberculosis: Evaluating the Bidirectional Interaction With Type‐2 Diabetes Mellitus and Clinical Outcomes

open access: yesTropical Medicine &International Health, EarlyView.
ABSTRACT Introduction Poor glycaemic control, indicated by a haemoglobin A1c (HbA1c) level of 7% or higher, increases the risk of active tuberculosis (TB) in patients with diabetes, while active TB can worsen glucose tolerance and insulin resistance, contributing to type‐2 diabetes mellitus (DM) progression.
Augustine Asare Boadu   +11 more
wiley   +1 more source

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