Results 81 to 90 of about 34,320 (185)

Modifiers factors of clinical severity in sickle cell anemia [PDF]

, 2007
Sickle cell anemia is a heterogeneous disorder with different degrees of clinical severity despite of being caused by a single base pair mutation (Glu6Val) of the ß-globin gene.
Figueiredo, Maria Stella
core   +3 more sources

The Ticking Clock: Differential Time‐Dependent Deterioration Between Washed and Thawed Sperm

Andrology, EarlyView.
ABSTRACT Background Cryopreservation is widely used in assisted reproductive technologies. While fresh sperm undergoes gradual time‐dependent deterioration, it remains unclear whether thawed sperm exhibits a more accelerated decline. Objectives To directly compare the rate of deterioration in sperm motility, vitality, and DNA fragmentation between ...
Adiel Kahana, Emily Hamilton, Noga Fuchs Weizman, Sandra E. Kleiman, Shlomit Shabat, Foad Azem, Shimi Barda   +6 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

The prevalence of thalassemia in mainland China: evidence from epidemiological surveys

Scientific Reports, 2017
Comprehensive data regarding the epidemiology and prevalence of thalassemia in mainland China are lacking. To assess the prevalence of thalassemia, we performed a meta-analysis including 16 articles published from 1981 to 2015.
Ketong Lai, Guifeng Huang, Li Su, Yunyan He   +3 more
doaj   +1 more source

Gene Mutation Spectrum of Thalassemia Among Children in Yunnan Province

Frontiers in Pediatrics, 2020
Background: Thalassemia is an autosomal genetic disorder, found throughout the world. It is still not treatable and create socio economic problems. In this study, we investigated the prevalence and spectrum features of thalassemia in Yunnan Province, the
Ti-Long Huang, Tian-Yao Zhang, Chun-Yan Song, Yun-Bi Lin, Bao-Hua Sang, Qing-Ling Lei, Yu Lv, Chun-Hui Yang, Na Li, Xin Tian, Yue-Huang Yang, Xian-Wen Zhang   +11 more
doaj   +1 more source

Cellular and biochemical heterogeneity contributes to the phenotypic diversity of transfusion-dependent β-thalassemia

Blood Advances
Abstract Transfusion-dependent thalassemia (TDT) is a type of protein aggregation disease. Its clinical heterogeneity imposes challenges in effective management. Red blood cell (RBC) variables may be clinically relevant as mechanistic parts or tellers of TDT pathophysiology.
Konstantina Theocharaki, Alkmini T. Anastasiadi, Sophia Delicou, Vassilis L. Tzounakas, Ioanna Barla, Stella Rouvela, Evgenia Kazolia, Georgia Tzafa, George Mpekoulis, Theodore Gousdovas, Efthymia Pavlou, Ioannis V. Kostopoulos, Athanassios D. Velentzas, Nikolaos Simantiris, Aikaterini Xydaki, Niki Vassilaki, Ersi Voskaridou, Ioanna-Katerina Aggeli, Efrosyni Nomikou, Ourania Tsitsilonis, Efstathia Papageorgiou, Nikolaos Thomaidis, Evangelos Gikas, Marianna Politou, Veroniki Komninaka, Marianna H. Antonelou   +25 more
openaire   +3 more sources

Detection on common deletional alpha thalassaemia in pregnant women by polymerase chain reaction techniques [PDF]

, 2015
Thalassaemia is the most common inherited disorder worldwide and represent as a major health problem in many areas and approximately 4.5%- 6% of Malaysians are carrier of this genetic disorder.
Fathma Abdullah, Nurul Ain
core  

Molecular Testing in Sickle Cell Disease: From Newborn Screening to Transfusion Care

International Journal of Laboratory Hematology, EarlyView.
ABSTRACT Sickle cell disease (SCD) is one of the most frequent monogenic diseases worldwide and a highly heterogeneous and complex disease. SCD care carries several challenges. This includes early and accurate diagnosis as well as optimal red blood cell transfusion matching in this population carrying a high risk of alloimmunization.
Thomas Pincez, Yves D. Pastore
wiley   +1 more source

Whole transcriptome analysis of human erythropoietic cells during ontogenesis suggests a role of VEGFA gene as modulator of fetal hemoglobin and pharmacogenomic biomarker of treatment response to hydroxyurea in β-type hemoglobinopathy patients [PDF]

, 2017
Background: Human erythropoiesis is characterized by distinct gene expression profiles at various developmental stages. Previous studies suggest that fetal-to-adult hemoglobin switch is regulated by a complex mechanism, in which many key players still ...
Ali, Bassam R., Chondrou, Vasiliki, John, Anne, Kastrinou, Vlasia, Katsila, Theodora, Kolovos, Petros, Kourakli, Alexandra, Papachatzopoulou, Adamantia, Patrinos, George P., Pavlidaki, Alexia, Sgourou, Argyro, Symeonidis, Argiris   +11 more
core   +5 more sources

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

International 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, Nicolas Ulrich Edgar, Anton V. Rets   +2 more
wiley   +1 more source