Results 71 to 80 of about 965,280 (210)

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

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

Screening results and analysis on genotype of thalassemia in 108 140 anemia patients in Chongqing

Di-san junyi daxue xuebao, 2020
Objective To investigate the genotypes and distribution characteristics of thalassemia in Chongqing. Methods A total of 108 140 peripheral blood samples were harvested from 36 districts and counties in Chongqing during January 2018 and November 2019 ...
YANG Yuan, ZHU Lidan, ZHANG Ying, LIU Shengyan, CHEN Yongping   +4 more
doaj   +1 more source

Transcriptional Repressors of Fetal Globin Genes as Novel Therapeutic Targets in Beta-Thalassemia [PDF]

, 2020
During development the human β-globin gene cluster undergoes two switching processes at the embryo-fetal and fetal-adult stages, respectively, involving changes in chromatin remodeling and in transcriptional regulatory networks. In particular, during the
Raffaele Sessa, Marianna De Martino, Michela Grosso, Mariarosaria Giuliano, Paola Izzo, Alessandra Lo Bianco, Silvia Trombetti, Rosa Catapano, Maria Rosaria Storino   +8 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

In Utero HSC Transplantation for Sickle Cell Disease: A Potential Therapeutic Approach That Overcomes Complications of Current Therapies

Prenatal Diagnosis, EarlyView.
ABSTRACT Sickle cell disease (SCD) affects millions worldwide but has limited treatment options, most of which carry significant side effects. At present, the only curative treatment for SCD is allogeneic or gene‐modified autologous hematopoietic stem cell (HSC) transplantation (Tx).
Oluwaseun O. Babatunde, Madeleine G. Bibby, Anthony Atala, Graça Almeida‐Porada, Christopher D. Porada   +4 more
wiley   +1 more source

Cytogenetic and Molecular Findings in Hydrops‐Related Mirror Syndrome

Prenatal Diagnosis, EarlyView.
ABSTRACT Objective Mirror syndrome is a rare, life‐threatening condition in which maternal fluid overload mirrors fetal hydrops. Data on genetic findings in affected pregnancies are limited. We compared genetic diagnoses in hydrops cases with and without mirror syndrome.
Brian A. Burnett, Christian M. Parobek, Jessian L. Munoz, Lauren E. Westerfield, Kristi Poling, Cara Buskmiller, Amir A. Shamshirsaz, Roopali V. Donepudi, Ignatia B. Van den Veyver, Magdalena Sanz Cortes, Michael A. Belfort, Ahmed A. Nassr   +11 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  

Lymphocyte subsets in untreated thalassemia patients: differences by genotype and age

Frontiers in Immunology
BackgroundThe Lymphocyte subsets in treatment-naïve patients and their variations among different genetic subtypes and age groups remain poorly characterized.MethodsTo characterize the distribution of lymphocyte subsets in treatment-naïve thalassemia ...
Renbin Zhao, Renbin Zhao, Renbin Zhao, Xiangmei Yao, Xiangmei Yao, Xiangmei Yao, Shuai Feng, Shuai Feng, Shuai Feng, Peng Hu, Yunlian Zou, Yunlian Zou, Yunlian Zou, Zefeng Yang, Zefeng Yang, Zefeng Yang, Jinping Zhang, Jinping Zhang, Jinping Zhang, Xin Guan, Xin Guan, Xin Guan, Chaoran Zhang, Chaoran Zhang, Chaoran Zhang, Zhongyu Wang, Jie Zhang, Zengzheng Li, Zengzheng Li, Zengzheng Li, Yajie Wang, Yajie Wang, Yajie Wang   +32 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