Results 91 to 100 of about 1,044,639 (194)

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

The Presence and Percentage of Circulating Nucleated Red Blood Cells Reveal Distinct Characteristics in Adults With Sickle Cell Disease

American Journal of Hematology, Volume 101, Issue 12, Page 2961-2975, December 2026.
ABSTRACT Although circulating nucleated red blood cells (cNRBCs) have previously been detected in patients with sickle cell disease (SCD), their prevalence and clinical significance during steady‐state disease have not been established. We retrospectively analyzed 270 adults with an SS or Sβ0‐thalassemia genotype.
Ugo Boccadifuoco, Ivan Lerner, Auria Godard, Luc Darnige, Laure Joseph, Wassim El Nemer, Geoffrey Cheminet, Jean‐Benoit Arlet   +7 more
wiley   +1 more source

Predicting factors of survival rates among alpha- and beta-thalassemia patients: a retrospective 10-year data analysis

Frontiers in Hematology
BackgroundThalassemia is a genetic hemoglobinopathy in which a defective globin chain can cause transfusion-dependent anemia and other complications.
Kunapa Iam-arunthai, Tawatchai Suwanban, Pravinwan Thungthong, Supat Chamnanchanunt, Supat Chamnanchanunt, Suthat Fucharoen   +5 more
doaj   +1 more source

Expanding the Utility of Exome Sequencing in Preventive and Population Genetics

American Journal of Medical Genetics Part A, Volume 200, Issue 11, Page 2433-2442, November 2026.
ABSTRACT Carrier screening is a long‐standing genetic testing process offered to at‐risk couples, with or without a family history, who might have pregnancies affected by an autosomal recessive (AR) or X‐linked (XL) disorder. A total of 276 unrelated individuals, initially referred for rare disorder screening by clinicians, were enrolled in this study ...
Charilaos Kostoulas, Athanasia Sesse, Ioanna Bouba, Robert Najdecki, Spyridon Konitsiotis, Sofia Markoula, Ioannis Georgiou   +6 more
wiley   +1 more source

α-globin genotypes and α-thalassemia frequencies among pregnant women, their husbands and neonates in Guangdong Province, China.

, 2014
α-globin genotypes and α-thalassemia frequencies among pregnant women, their husbands and neonates in Guangdong Province, China.
Yuanzhu Ma (528252), Jicheng Wang (528255), Juqing Liang (528253), Hao Guo (346528), Yanxia Zhang (483434), Wei-wei Huang (5658139), Longchang Xu (528251), Tenglong Yuan (528256), Shuang Gao (517049), Chang Liu (35901), Li Wu (120770), Sujian Xia (501706), Qingshan Chen (528259), Aihua Yin (528249), Danqing Qin (528254), Yixia Wang (528257), Xiaozhuang Zhang (528260), Tingting Chen (111216), Bing Li (43671), Qingguo Zhao (261691), Mingyong Luo (528250), Liang Zhang (41392), Wen-Fei He (528258)   +22 more
core   +1 more source

PBI22 Rethinking the Health-Economic Evaluation Framework for GENE Therapies: The Betibeglogene Autotemcel (BETI-CEL) Case in Î’-Thalassemia [PDF]

Value in Health, 2020
L. Undreiner, M. Caillon, C. Paramore, S. Roze   +3 more
openaire   +1 more source

Does Molecularly Guided Therapy Change the Surgical Goals of Glioma Resection?

Brain and Behavior, Volume 16, Issue 11, November 2026.
ABSTRACT Purpose For more than 20 years, the goal of glioma surgery has been to remove as much tumor as possible without compromising patient safety. Many retrospective studies support that greater extent of resection is often associated with longer survival. However, three recent developments have challenged this traditional approach.
Naeem Ul Haq, Sardar Umer Irshad, Irfan Ullah, Sardar Remsha Irshad, Shah Mir, Muhammad Shaheer Khan, Ali Mumtaz, Malik Ahsan Jamal, Jahan Mubariz   +8 more
wiley   +1 more source

A novel α 0-thalassemia deletion in a Greek patient with HbH disease and β-thalassemia trait

, 2012
Objectives: To determine the molecular basis in a Greek child suspected of having HbH disease and β-thalassemia trait. Methods: Standard hematology, Hb electrophoresis, and HPLC. Multiplex ligation-dependent probe amplification (MLPA), direct sequencing,
Phylipsen, M., Karagiorga, M., Harteveld, C.L., van der Kraan, M., Stamoulakatou, A., Kanavakis, E., Geerts, M., van Delft, P., Bakker, G., Traeger-Synodinos, J., Giordano, P.C.   +10 more
core   +1 more source

Comprehensive Hematological and molecular Characterization of hemoglobin Hekinan [α27(B8)Glu→Asp(α1), HBA1:c.84G > T] in a Large Thai cohort

Hematology
Background: Hemoglobin (Hb) Hekinan is a prevalent α-globin variant frequently missed in thalassemia screening centers using high-performance liquid chromatography (HPLC) or capillary electrophoresis.
Amornchai Suksusut, Jidapa Jaitheang, Manussavee Prapphal, Pranee Sutcharitchan, Ponlapat Rojnuckarin, Noppacharn Uaprasert   +5 more
doaj   +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