Results 71 to 80 of about 34,912 (203)

Diagnosis and Management of Prenatal Hereditary Pyropoikilocytosis

Prenatal Diagnosis, EarlyView.
ABSTRACT Hereditary pyropoikilocytosis (HPP) is a severe hemolytic anemia caused by variants in SPTA1, SPTB, and EPB41. These weaken horizontal interactions in the erythrocyte cytoskeleton, causing membrane fragmentation and splenic sequestration. It will readily cause fetal anemia and often hydrops fetalis. Prenatal diagnosis requires first ruling out
Connor Hartzell, Samantha Stover, Nora Gibson, Timothy Olson, James Connelly, Matthew Grace, Jennifer Andrews   +6 more
wiley   +1 more source

Analysis of Common Alpha-Globin Gene Abnormalities and Their Effects as Genetic Modifiers in Thai Children With β-Globin Gene Abnormalities

Anemia
Beta-thalassemia exhibits a broad phenotypic range influenced by the severity of HBB mutation and various genetic modifiers. One of the most essential modifiers is the coinheritance of α-globin gene mutation.
Sethapong Lertsakulbunlue, Boonchai Boonyawat, Chanchai Traivaree, Apichat Photia   +3 more
doaj   +1 more source

The role of iron in normal and impaired testicular function

Andrology, EarlyView.
Abstract Iron plays a critical role in testicular physiology, impacting spermatogenesis, testosterone production, and overall testicular function. Iron homeostasis is maintained through systemic and cellular regulatory mechanisms, including hepcidin‐mediated systemic iron control and the iron‐responsive element/iron regulatory protein (IRE/IRP) system ...
Aileen Harrer, Esther G. Meyron‐Holtz, Andreas Meinhardt   +2 more
wiley   +1 more source

First Report of a Fatal Case Associated with EV-D68 Infection in Hong Kong and Emergence of an Interclade Recombinant in China Revealed by Genome Analysis [PDF]

, 2017
published_or_final_versio
Chan, JFW, Chan, KH, Cheng, CCV, Lau, SKP, Lo, JYC, Luk, S, Lung, DC, Sridhar, S, Woo, PCY, Yip, CY, Yuen, KY   +10 more
core   +1 more source

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

American Journal of Hematology, EarlyView.
Bo A. Wan, Hamish Nicolson, Heather A. Leitch, Ryan J. Stubbins, Luke Y. C. Chen, Timothy Murray, Amy Trottier, Anthony Gador   +7 more
wiley   +1 more source

Whole Blood Transcriptomic Analysis of Sickle Cell Trait

European 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, Yanwei Cai, Ana Gabriela Vasconcelos, Peter Orchard, Paul L. Auer, Guillaume Lettre, Jia Wen, Nora Franceschini, Charles Kooperberg, Wei Sun, Li Hsu, Laura M. Raffield, Alex P. Reiner   +12 more
wiley   +1 more source

Diagnosis of thalassemia carriers commonly found in Northern Thailand via a combination of MCV or MCH and PCR-based methods

Journal of Associated Medical Sciences, 2013
Background: Conventional diagnostic strategy for thalassemia carriers is time-consuming and requires many types of laboratory tests. Objective : To demonstrate the possibility of a combination of MCV or MCH and a PCR-based technique in identifying α ...
Wibhasiri Srisuwan, Thanusak Tatu
doaj  

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

, 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, Coelho, Andreia, Faustino, Paula, Ferrão, José, Forjaz-Lacera, João, Gomes, Susana, Gonçalves, João, Gonçalves, Lúcia, Kjollerstrom, Paula, Lavinha, João, Maia, Raquel, Miranda, Armandina, Pina, Francisca, Seuanes, Filomena, Silva, Marisa, Sonesson, A., Valtonen-Andrá, C.   +16 more
core  

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

The 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, Bastien Morlet, Luc Negroni, Orsolya Mózner, Balázs Sarkadi, Gilles Travé, Gergo Gogl   +6 more
wiley   +1 more source

A rare −α27.6 deletion compounded with the hemoglobin constant spring mutation identified in a Chinese couple

Hematology
Background Thalassemia is a common hemoglobin disorder caused by genetic defects in a single autosomal gene. Based on the deficient globin strand, it can be classified as α-thalassemia or β-thalassemia.
Wei Li, Zhao-Yi Guo, Zi-Han Xiu, Min Long, Yan Xiao, Li-Yi Liu, Yu-Chen Chen, Si-Fan Zeng, Jing Zhang, Min Zhang   +9 more
doaj   +1 more source