Results 61 to 70 of about 1,319,935 (211)

Prevalence of Co-Inheritance of Alpha-Thalassemia with Beta-Thalassemia and Beta-Hemoglobinopathy in Ahvaz City

Journal of Ardabil University of Medical Sciences, 2013
Background: Co-inheritance of hemoglobin gene defects is a rare important status that can lead to double heterozygote or homozygote with significant clinical manifestations. Such conditions can be observed in co-inheritance of alpha-thalassemia with beta-
Najmaddin Saki, Akbar Dorgalaleh, Zahra Kashani Khatib, Shaban Alizadeh, Fakher Rahim, Hamid Galehdari, Bijan Kaikhaei, Mohammad Pedram, Ali Dehghani Fard   +8 more
doaj  

Expanding the Utility of Exome Sequencing in Preventive and Population Genetics

American Journal of Medical Genetics Part A, EarlyView.
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

Genetic prediction of blood cell reactivity and its potential causal influence on bone continuity and density disorders

Animal Models and Experimental Medicine, EarlyView.
We applied Mendelian randomization to explore causal links between blood cell traits and skeletal disorders. Using genetic instruments from large‐scale summary statistics, we assessed effects on bone continuity, density, and structural integrity. Sensitivity and reverse analyses confirmed robust associations, highlighting potential shared biological ...
Zhiqin Deng, Zhe Zhao, Wenting Jiang, Xiaoqiang Chen, Jianquan Liu, Xu Tao, Zhengyang Lin, Zhenhan Deng, Wencui Li   +8 more
wiley   +1 more source

Prevalence of Alpha(α)-Thalassemia in Southeast Asia (2010–2020): A Meta-Analysis Involving 83,674 Subjects

International Journal of Environmental Research and Public Health, 2020
Alpha(α)-thalassemia is a blood disorder caused by many types of inheritable α-globin gene mutations which causes no-to-severe clinical symptoms, such as Hb Bart’s hydrops fetalis that leads to early foetal death. Therefore, the aim of this meta-analysis
L. P. W. Goh, E. Chong, Ping-Chin Lee
semanticscholar   +1 more source

Influence of alpha thalassemia on clinical and laboratory parameters among nigerian children with sickle cell anemia

Journal of clinical laboratory analysis (Print), 2018
There is paucity of data on the influence of alpha thalassemia on the clinical and laboratory parameters among Nigerian sickle cell anemia (SCA) patients.
O. Olatunya, D. M. Albuquerque, A. Adekile, F. Costa   +3 more
semanticscholar   +1 more source

Long molecule sequencing: a new approach for identification of clinically significant DNA variants in alpha and beta thalassemia carriers.

Journal of Molecular Diagnostics, 2020
Currently, carrier testing for thalassemia requires the application of different molecular tests to provide an accurate genotype. As an alternative methodology, we evaluated long molecule sequencing (LMS) on the PacBio Sequel platform for genotyping ...
Liangpu Xu, Aiping Mao, Hui Liu, B. Gui, K. Choy, Hailong Huang, Qian Yu, Xiaojie Zhang, Meihuan Chen, N. Lin, Lingji Chen, Jin Han, Yan Wang, Min Zhang, Xiaoyu Li, D. He, Yuan Lin, Jianguang Zhang, D. Cram, Hua Cao   +19 more
semanticscholar   +1 more source

Alpha thalassemia deletions found in suspected cases of beta thalassemia major in Pakistani population

Pakistan Journal of Medical Sciences, 2017
Background & Objective: Alpha (α) thalassemia is a hereditary disorder and is caused by deletions or mutations in globin genes. It is present in two clinically significant forms: hemoglobin Bart hydrops fetalis (Hb Bart) syndrome and hemoglobin H (HbH ...
S. Shahid, M. Nadeem, D. Zahid, J. Hassan, S. Ansari, T. Shamsi   +5 more
semanticscholar   +1 more source

Diagnosis and Management of Prenatal Hereditary Pyropoikilocytosis

Prenatal Diagnosis, EarlyView.
ABSTRACT Hereditary pyropoikilocytosis (HPP) is a severe hemolytic anemia caused by variants in SPTA1, SPTB, and EPB41. These weaken horizontal interactions in the erythrocyte cytoskeleton, causing membrane fragmentation and splenic sequestration. It will readily cause fetal anemia and often hydrops fetalis. Prenatal diagnosis requires first ruling out
Connor Hartzell, Samantha Stover, Nora Gibson, Timothy Olson, James Connelly, Matthew Grace, Jennifer Andrews   +6 more
wiley   +1 more source

Molecular and Hematological Characterization of α-Thalassemia in Denizli Province

Acta Haematologica Oncologica Turcica
Aim: Alpha thalassemia, a common monogenic disorder, occurs with defective synthesis of the α-globin chain and has a very wide clinical spectrum depending on the disorders in the globin genes.
Derya Karaer, Tuba Uğurlu Er, Nevin Alayvaz Aslan, Taner Durak   +3 more
doaj   +1 more source

In Utero HSC Transplantation for Sickle Cell Disease: A Potential Therapeutic Approach That Overcomes Complications of Current Therapies

Prenatal Diagnosis, EarlyView.
ABSTRACT Sickle cell disease (SCD) affects millions worldwide but has limited treatment options, most of which carry significant side effects. At present, the only curative treatment for SCD is allogeneic or gene‐modified autologous hematopoietic stem cell (HSC) transplantation (Tx).
Oluwaseun O. Babatunde, Madeleine G. Bibby, Anthony Atala, Graça Almeida‐Porada, Christopher D. Porada   +4 more
wiley   +1 more source