Results 41 to 50 of about 840,950 (218)

Newborn Screening Practices for Beta-Thalassemia in the United States

International Journal of Neonatal Screening, 2021
Beta-thalassemia, a heritable condition of abnormal hemoglobin production, is not a core condition on the United States Recommended Uniform Screening Panel (RUSP) for state and territorial newborn screening (NBS) programs.
Michael A. Bender, Mary Hulihan, Mary Christine Dorley, Maria del Pilar Aguinaga, Jelili Ojodu, Careema Yusuf   +5 more
doaj   +1 more source

ANALYSIS OF MALONDIALDEHYDE LEVELS IN CHILDREN WITH BETA THALASSEMIA: A CROSS-SECTIONAL STUDY [PDF]

, 2023
Beta thalassemia is an autosomal recessive genetic condition affecting people worldwide, including in Indonesia. Malondialdehyde levels, a peroxidation product, can be used to see if there is an iron buildup in the body due to lifelong transfusions. This
Alaydrus, Syarifah Raehana Mardiah, Satriono, Kwari Januar, L, Amiruddin, Alasiry, Ema, Ridha, Nadirah Rasyid, Angriani, Hadia   +5 more
core   +2 more sources

Evaluation of the levels of the markers of ineffective erythropoiesis (transforming growth factor-beta, growth differentiation factor 15 and erythropoietin) in patient with ß-thalassemia syndrome and its correlation to clinical and hematological parameters

Iraqi Journal of Hematology, 2022
BACKGROUND: Anemia of β thalassemia results from a combination of ineffective erythropoiesis and hemolysis. This stimulates erythropoietin (EPO) production, which causes expansion of the bone marrow and may lead to serious deformities of the skull and ...
May Hikmat Yousif, Hind Shaker Al-Mamoori   +1 more
doaj   +1 more source

Neurocognitive, School‐Based, and Quality of Life Outcomes for Youth With Sickle Cell Disease and Thalassemia: A Scoping Review

Pediatric Blood &Cancer, EarlyView.
ABSTRACT The medical burdens of sickle cell disease (SCD) and transfusion‐dependent β‐thalassemia (TDT) are chronic and cumulative, even in children. Yet the effects expand beyond medications and healthcare visits due to their impacts on school attendance, academic performance, and peer engagement.
Mary Ann Etling, Hakim Tokhi, Alexander A. Boucher   +2 more
wiley   +1 more source

MN•CS•IO System: Cross‐Species Study for HBB Function in High‐Altitude Hypoxia Adaptation

Advanced Science, EarlyView.
We developed an integrative mesh‐nanorod sorting, chitosan nanoparticle delivery, and intraosseous injection (MN•CS•IO) system to investigate HBB in high‐altitude hypoxia adaptation. Transplanting Tibetan animals' HBB‐modified Lin‐ cells into mice achieved 95.59% transfection efficiency and 8.15% HBB expression. High‐altitude HBB recipients upregulated
Wenqiao Hui, Lin Mao, Binggang Li, Hanyue Kang, Zhengquan Tang, Sheng Chen, Hui Yang, Yu Qiao, Huiqian Ding, Yuhuan Wang, Min Li, Junjie Hu, Shoudong Ye, Xin Wang, Xiaobin Xu, Yupeng Wang, Tana Wuren, Qian Ban, Baowei Zhang   +18 more
wiley   +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, EarlyView.
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

Cell and Gene Therapies Manufacturing Challenges and Integrated Good Manufacturing Practices Solutions: A Lifecycle Perspective

Biotechnology and Bioengineering, EarlyView.
Lifecycle perspective on cell and gene therapy manufacturing challenges and enabling GMP solutions. ABSTRACT Cell and gene therapies (CGTs) are revolutionizing modern medicine; however, making these advanced medicines scalable and readily available to commercial manufacturers worldwide is a major challenge. The number of approved CGT products continues
Rajath Samaga, Udisha Singh, Sachin Dattram Pawar   +2 more
wiley   +1 more source

Endocrine Disorders in Adult Beta-Thalassemia Patients: Insights from a Long-Term Follow-Up

, 2023
Objective: There are limited studies regarding endocrine complications in Turkish adult thalassemic patients. Data regarding newly emerging endocrine complications in the long-term monitoring of adult patients with beta-thalassemia are also quite limited.
OKAY, MÜFİDE, Müfide Okay, Fatma Gümrük, GÜMRÜK, FATMA, Şule Ünal, Nilgün Sayınalp, Seda Hanife Oğuz, ÜNAL, ŞULE, ÜNLÜTÜRK, UĞUR, SAYINALP, NİLGÜN, Uğur Ünlütürk, Oğuz, Seda Hanife, FEDAİ, AHMET BURAK, Ahmet Burak Fedai   +13 more
core   +1 more source

Beta O-thalassemia intermedia [PDF]

Blood, 1978
Abstract Three patients with a relatively mild form of beta O-thalassemia who did not require regular blood transfusions are described. Globin synthesis was studied by gel filtration and urea-carboxymethylcellulose chromatography of stroma-free hemolysates prepared from peripheral blood and bone marrow cells labeled in vitro with 14C ...
G, Cividalli, H, Kerem, E, Ezeckiel, E A, Rachmilewitz   +3 more
openaire   +3 more sources

Phenotypic and Genotypic Analysis of Two Rare Cases of ‐‐SEA/‐α4.3 HbH Disease

Journal of Clinical Laboratory Analysis, EarlyView.
We report two unrelated adult patients with rare deletional HbH disease (genotype ‐‐SEA/‐α4.3). This novel 4.3 kb deletion covering the HBA1 gene is accompanied by X‐Y‐Z segment recombination, which was identified by CycloneSEQ long‐read nanopore sequencing.
Weijia Yang, Xiaoyan Huang, Li Zhang, Xiaoqin Yang, Yaya Guo, Qingping Kang, Min Dou, Guijun Huang   +7 more
wiley   +1 more source