Results 81 to 90 of about 2,781 (251)

Molecular Diagnostics of ß-Thalassemia

Balkan Journal of Medical Genetics, 2012
A high-quality hemoglobinopathy diagnosis is based on the results of a number of tests including assays for molecular identification of causative mutations.
Plaseska-Karanfilska Dijana, Atanasovska B, Bozhinovski G, Chakalova L, Kocheva S, Karanfilski O   +5 more
doaj   +1 more source

Hydroxyurea (hydroxycarbamide) use in adults with haemoglobin SC disease: A real‐world study in Quebec

British Journal of Haematology, EarlyView.
Summary Haemoglobin SC (HbSC) disease is the second most prevalent form of sickle cell disease, but evidence for hydroxyurea (hydroxycarbamide; HU) to prevent pain episodes was limited until the prospective identification of variables as outcomes for treatment (PIVOT) trial.
Alice Girard, Laurianne Charette, Mélissa Haouchine, Laurence Bozec, Mohamed Zakaria Bachir Bouyadjera, Mariane Poitras, Vincent‐Thierry Taillefer, Chloé Trudeau, Yves Pastore, Nathalie Letarte, Stéphanie Forté   +10 more
wiley   +1 more source

Free Fetal DNA Testing to Guide Early Intervention in the Management of the Kell Alloimmunized Pregnancy

Prenatal Diagnosis, EarlyView.
Kenneth J. Moise Jr, Thomas Trevett, Stephanie Moench, Erin Moise   +3 more
wiley   +1 more source

Multicentric Asynchronous Endocrine Mucin‐Producing Sweat Gland Carcinoma and Mucinous Carcinoma of the Skin

Journal of Cutaneous Pathology, EarlyView.
ABSTRACT Endocrine mucin‐producing sweat gland carcinoma (EMPSGC) is an adnexal neoplasm which typically occurs on periorbital skin and demonstrates overlapping histopathologic features with primary mucinous carcinoma of the skin (MCS). Herein, we report a patient who developed five distinct lesions of EMPSGC and MCS over an eight‐year period, some of ...
Ikuko Hirai, Joseph F. Sobanko, Tara C. Mitchell, Jacquelyn Roth, Rosalie Elenitsas, Emily Y. Chu   +5 more
wiley   +1 more source

Third Allogeneic Stem Cell Transplantation in Children: A Multicenter Analysis From the Spanish GETH‐TC Pediatric Group

European Journal of Haematology, EarlyView.
ABSTRACT Third allogeneic hematopoietic stem cell transplantation (HSCT3) is rarely performed in pediatric patients and is associated with high toxicity and mortality. Data on outcomes in this setting remain scarce. We conducted a retrospective multicenter study within the Spanish GETH‐TC Pediatric group including 29 children and adolescents who ...
Luisa Sisinni, Sara Vinagre Enríquez, Marta Villalon Herrera, Mercedes Plaza Fornieles, Iván López Torija, Andrea Urtasun Erburu, Laura Alonso García, Alexandra Regueiro García, Maria Trabazo del Castillo, Eduardo J. Bardón‐Cancho, Odelaisy León‐Triana, Carla Miñarro Chacón, José Luís Fuster Soler, Antonio Pérez‐Martínez, Pascual Balsalobre López, Marta Gonzalez‐Vicent, Cristina Díaz de Heredia, on behalf of the GETH‐TC Pediatric Working Group   +17 more
wiley   +1 more source

In vitro inhibition of BCL11A gene expression by RNAi for the Treatment of ?-Thalassemia

Mediterranean Journal of Hematology and Infectious Diseases, 2014
Thalassemias are general genetic disorders in the Indian subcontinent. Thalassemia is a kind of genetic disorder of the blood that is passed from one generation to the other, exemplified by reduced or absent amounts of hemoglobin.
Vikas Urkude, Amit Mishra, Mahavir Yadav, Archana Tiwari   +3 more
doaj  

Development of HEK293T cell reference materials for β-thalassemia genetic testing using prime editing

Türk Biyokimya Dergisi
β-Thalassemias, caused by mutations in HBB, are hereditary blood disorders that impose a significant global health burden. Detecting these mutations through accurate genetic analysis is essential. This study aimed to create a panel of cell type reference
Ren Baoyan, Lu Jiahao, Tan Weihe, Lin Kangfeng, Xu Jingping, Zheng Yu, Xing Xingan, Zhou Qiaomiao   +7 more
doaj   +1 more source

Hemoglobin—A Review of Structure, Mechanisms and Analysis in the Clinical Diagnostic Laboratory

LabMed
This review focuses on the analysis of hemoglobin in the clinical laboratory with an emphasis on the structure–function relationships of hemoglobin and the various methodologies used for its measurement.
Neil S. Harris, Paul Boothe, Hanna Mbatia, William E. Winter, Maximo J. Marin   +4 more
doaj   +1 more source

Is There a Difference in Occurrence of Complications Between Adults With Hemoglobin SS and Hemoglobin SC Disease: An Extended Systematic Review

European Journal of Haematology, EarlyView.
ABSTRACT Sickle cell disease (SCD) is characterized by both acute and chronic complications. The clinical manifestation of these complications differs between genotypes. Given the large amount of research already published, this systematic review aims to offer a complete overview of types of sickle cell complications between adults in the most common ...
Martijn van der Meer, Kim Velsink, Wing H. Tong, Jan W. Schoones   +3 more
wiley   +1 more source

Hb SKMC and an unprecedented γδβ-thalassemia: first report from Iraq

Hematology
Background Thalassemias are genetic disorders of globin chain synthesis. In Iraq, β-thalassemia is more prevalent than α-thalassemia. This study identifies two unpredicted globin gene mutations, a rare α-globin gene mutation (Hb SKMC) and a novel γδβ ...
Rawand P. Shamoon, Amir Charkaneh, Elena Di Pierro, Milena Irrera, Cristina Curcio, Ahmed Yassin, Rozhgar A. Khailany   +6 more
doaj   +1 more source