Results 71 to 80 of about 34,320 (185)

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

Heterozygous Beta‐Thalassaemia in Pregnancy: Two Rare Causes of Severe Fetal Anemia Requiring Intrauterine Blood Transfusions

Prenatal Diagnosis, EarlyView.
ABSTRACT Aim In this article, we present two cases of severe fetal hemolytic anemia based on a beta‐thalassaemia trait inherited from a single parent. Results These cases, presented at 20 and 28 weeks' gestation, necessitated intra‐uterine blood transfusions.
Eva van der Meij, Frans J. W. Smiers, Tamara T. Koopmann, Ingrid Krapels, Kaatje LePoole, Enrico Lopriore, Johanna M. Middeldorp, Claudia S. Ootjers, Volkher Scharnhorst, Hubertina C. J. Scheepers, Cornelis L. Harteveld, E. J. T. (Joanne) Verweij   +11 more
wiley   +1 more source

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  

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

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

Next‐generation sequencing in newborn screening: Current status, challenges, and future perspectives

Pediatric Investigation, EarlyView.
Newborn screening shifts from biochemical to genetic methods. Global exploration is promising but requires overcoming challenges and international collaboration to optimize implementation. ABSTRACT Newborn screening (NBS) is a key public health intervention that improves children's health outcomes by enabling precise intervention through the early ...
Zhelan Huang, Wenhao Zhou
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  

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

Evaluating controlled human malaria infection in Kenyan adults with varying degrees of prior exposure to Plasmodium falciparum using sporozoites administered by intramuscular injection [PDF]

, 2014
16.04.15 KB.
Adam Richman, Adrian V. S. Hill, Alex Macharia, Alfred Muia, Amina Salim, Andrew O. Cole, Anusha Gunasekera, B. Kim L. Sim, Bernhards Ogutu, Brett Lowe, Caroline Ogwang, Charles Magiri, Daniel Njenga, Domtila Kimani, Elizabeth Juma, Eric R. James, Faith H. Osier, Gathoni Kamuyu, Ken Awuondo, Kevin Marsh, Marianne Munene, Michelle Muthui, Patricia Njuguna, Peter C. Bull, Peter F. Billingsley, Philip Bejon, Sassy Molyneux, Sean C. Elias, Simon J. Draper, Stephen Gerry, Stephen L. Hoffman, Susanne H. Hodgson, Thomas N. Williams, Thomas W. Rampling, Yonas Abebe   +34 more
core   +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