Results 121 to 130 of about 34,912 (203)

A Case of IDH‐Mutant Astrocytoma Harboring an IDH2 R172_H173delinsSN Variant

Neuropathology, Volume 46, Issue 2, April 2026.
ABSTRACT IDH‐mutant gliomas most commonly harbor the canonical IDH1 p.R132H mutation, followed by less common mutations involving IDH1 p.R132 or IDH2 p.R172 codons. We present a case of a 32‐year‐old male found to have a left temporal brain tumor with regional enhancement on brain MRI, for which he underwent resection.
Thomas Auen, Jie Chen, Nicole Shonka, Sahara Cathcart   +3 more
wiley   +1 more source

Human candidate gene polymorphisms and risk of severe malaria in children in Kilifi, Kenya: a case-control association study [PDF]

, 2018
Background: Human genetic factors are important determinants of malaria risk. We investigated associations between multiple candidate polymorphisms—many related to the structure or function of red blood cells—and risk for severe Plasmodium falciparum ...
Alexander, W Macharia, Anna, Jeffreys, Bancone, G., Benjamin, Tsofa, Carolyne, M Ndila, Christina, Hubbart, Dominic, P Kwiatkowski, Gavin, Band, Geraldine, Clarke, Gideon, Nyutu, Hughes, C., John, Ojal, Kate, Rowlands, Kathryn, Maitland, Kennedy, O Awuondo, Kevin, Marsh, Kirk, A Rockett, Malariagen, Consortium, Mangano, V., Margaret, Mackinnon, Modiano, David, Mohammed, Shebe, Neema, Mturi, Norbert, Peshu, Nuno, Sepúlveda, Silvia, Kariuki, Sophie, Uyoga, Taane, G Clark, Thomas, N Williams   +28 more
core   +1 more source

Analysis of thalassemia genotypes and HbA2 test results in pregnant women in Shenzhen, China

Scientific Reports
To examine the thalassemia genotypes and distribution among pregnant women in Shenzhen, as well as the diagnostic value of HbA2 in thalassemia screening, in order to provide scientific evidence for thalassemia prevention and control in this region.
Hou Qian, Weihua Zhao, Weifeng Li, Yike Wu, Xiuhua Lin, Jianlin Huang, Hong Zhang, Dayong Gu   +7 more
doaj   +1 more source

Study on the diagnostic and differential value of thalassemia through combined blood routine examination and reticulocyte detection

Frontiers in Pediatrics
ObjectiveThis study aims to explore the diagnostic and differential values of thalassemia genotypes using combined complete blood count (CBC) and reticulocyte parameter analysis in neonates, considering physiological age-related hematological changes ...
Haiyan Ke, Haiyan Ke, Hongxia Zhang, Hongxia Zhang, Hong Jiang, Hong Jiang, Sheng Li, Sheng Li, Hui Wang, Hui Wang   +9 more
doaj   +1 more source

Is Hemoglobin Variant Analysis Helpful in the Diagnostic Work-up of Patients Revealing Microcytic Erythrocytosis on Complete Blood Count? [PDF]

, 2015
Introduction: Microcytic erythrocytosis is an abnormal CBC (complete blood count) finding that is under-recognized, poorly understood, and consequently under-utilized in patient care. It is characterized by decreased MCV and increased RBC count.
Dulau-Florea, Alina, Gong, MD, Jerald Z., Gulati, Ph.D, Gene, Joneja, MD, Upasana   +3 more
core   +1 more source

Bases moleculares de hemoglobinopatias na Argentina [PDF]

, 2017
Durante el desarrollo de un individuo se expresan distintas cadenas de globina de tipo α y no-α, que se combinan en tetrámeros para formar hemoglobina. Los genes que las codifican se organizan en familias.
Scheps, Karen, Varela, Viviana
core  

KLF1 in Erythroid Differentiation [PDF]

, 2015
β-thalassemia and sickle cell disease, along with α-thalassemia, are the most common monogenic disorders, with approximately 300.000 affected children born each year. The observation that increased γ-globin expression can ameliorate the symptoms of these
Cantù, I. (Ileana)
core  

A case-control genome-wide association study identifies genetic modifiers of fetal hemoglobin in sickle cell disease. [PDF]

, 2016
Sickle cell disease (SCD) is a group of inherited blood disorders that have in common a mutation in the sixth codon of the β-globin (HBB) gene on chromosome 11.
Ballas, Samir K., Ding, Liang-Hao, Hoppe, Carolyn, Liu, Li, Pace, Betty S, Pertsemlidis, Alexander, Sebastiani, Paola, Steinberg, Martin H, Story, Michael D   +8 more
core   +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

Hubungan Antara Besi Serum Dan Saturasi Transferin Dengan Kadar Hepsidin Pada Carrier Talasemia- Β [PDF]

, 2012
Latar belakang: Penyakit genetik anemia hemolitik seperti talasemia terutama carrier talasemia umumnya jarang diketahui oleh masyarakat awam, namun tingkat prevalensinya cukup tinggi dalam penyebab mortalitas dan morbiditas.
Komaria, K. (Komaria), Widyastiti, N. S. (Nyoman)   +1 more
core