Results 131 to 140 of about 24,308 (321)

Análise do polimorfismo TA6/TA7 na região promotora do gene UGT1A1, em pacientes com anemia e traço falciforme de dois hospitais da cidade de Porto Alegre – RS [PDF]

, 2011
A doença de células falciformes é uma anemia hemolítica crônica de caráter autossômico recessivo, causada por uma mutação pontual no cromossomo 11. Esta mutação provoca a substituição de um ácido glutâmico por uma valina na posição seis da cadeia da ...
Antunes, Liana
core  

Foreword: Advances in Hemoglobinopathies.

, 2021
Vincenzo De Sanctis
openalex   +2 more sources

Narratives before numbers: Reimagining conversations about race, ethnicity, and ancestry information in genetic counseling practice

Journal of Genetic Counseling, Volume 34, Issue 6, December 2025.
Abstract As genomic testing becomes more common, it is essential to re‐examine practical and ethical arguments for and against eliciting race, ethnicity, and ancestry (REA) information from patients as a default practice in genetic counseling. In this article, we evaluate current and historical reasons for using REA information in clinical genetics ...
Emily Peugh, Sara Chandros Hull, Leila Jamal   +2 more
wiley   +1 more source

The First Korean Hemoglobinopathy With Unique Hemoglobin Electrophoresis Results Diagnosed as Hemoglobin Boras

, 2023
Jeongyun Bae, Won Kee Ahn, Jaehyeok Jang, Hanmil Jang, Hyein Kang, John Hoon Rim, Seung Min Hahn, Jung Woo Han, Chuhl Joo Lyu, Jong‐Baeck Lim   +9 more
openalex   +2 more sources

Perceived utility of genetic carrier screening in a diverse patient population

Journal of Genetic Counseling, Volume 34, Issue 6, December 2025.
Abstract Current reproductive guidelines call for offering expanded carrier screening (ECS) for genetic conditions. Currently available panels can include screening for carrier status of tens to hundreds of autosomal recessive and/or X‐linked conditions.
Jack A. Colleran, Meagan Choates, Syed Hashmi, Brittanie Shelton, Aranza Gonzalez Cendejas, Angela Haynes Burgess, Blair K. Stevens   +6 more
wiley   +1 more source

BRAF mutation in hairy cell leukemia

Oncology Reviews, 2014
BRAF is a serine/threonine kinase with a regulatory role in the mitogen-activated protein kinase (MAPK) signaling pathway. A mutation in the RAF gene, especially in BRAF protein, leads to an increased stimulation of this cascade, causing uncontrolled ...
Ahmad Ahmadzadeh, Saeid Shahrabi, Kaveh Jaseb, Fatemeh Norozi, Mohammad Shahjahani, Tina Vosoughi, Saeideh Hajizamani, Najmaldin Saki   +7 more
doaj   +1 more source

HPLC Retention Time as a Diagnostic Tool for Hemoglobin Variants and Hemoglobinopathies: A Study of 60000 Samples in a Clinical Diagnostic Laboratory [PDF]

, 2004
Alla Joutovsky, Joan Hadzi-Nesic, Michael Nardi   +2 more
openalex   +1 more source

Machine Learning‐Based Detection of HbS and HbC Carriers in the UK General Population

eJHaem, Volume 6, Issue 6, December 2025.
ABSTRACT Background Haemoglobin S (HbS) and C (HbC) are the most important sickling variants on the African continent, imposing major health burdens. Early detection of carrier status is crucial but often hindered by resource limitations. Objectives To develop machine learning (ML) models to accurately classify HbS and HbC carriers using readily ...
Frederik Christensen, Deniz Kenan Kılıç, Alexander Djupnes Fuglkjær, Jesper Petersen, Tarec Christoffer El‐Galaly, Andreas Glenthøj, Jens Helby, Izabela Ewa Nielsen   +7 more
wiley   +1 more source

Prevalence, Characteristics, and Determinants of Chronic Pain among Thalassemic Patients at King Abdulaziz University Hospital

Journal of Applied Hematology
BACKGROUND: Thalassemia is a hereditary hemoglobinopathy characterized by inadequate or absent globin synthesis. This study aims to assess the prevalence and incidence of chronic pain in individuals with thalassemia within our population and further ...
Adel F. Al-Marzouki, Soad Aljaouni, Sultan A. Alghamdi, Abdulrahman Alghamdi, Ahmed M. Alghamdi, Khalid G. Almramhi, Meshal M. Alasiri, Ayar A. Bukhari, Maha Safhi, Rana Baghdadi, Ohoud A. Alghamdi, Raghad K. Babaker, Nouran H. Farag   +12 more
doaj   +1 more source

The Results of Hemoglobinopathy Screening in Hatay, the Southern Part of Turkey Türkiye'nin Güneyinde Hatay'da

, 2014
Aim: β-Thalassemia and hemoglobinopathies are common genetic disorders in Turkey. Because of this reason, either anemic people or couples before marriage are investigated for hemoglobinopathies routinly.
G. Oktay, C. Acıpayam, Y. Karal, S. Basun   +3 more
semanticscholar   +1 more source