Results 121 to 130 of about 36,976 (279)

Applying the National Genomic DNA Reference Materials to Evaluate the Performance of Nanopore Sequencing in Identifying Thalassemia Variants

Journal of Clinical Laboratory Analysis, Volume 39, Issue 11, June 2025.
This study mainly to evaluate the performance of nanopore technology in thalassemia detection by utilizing the national genomic reference materials in China. We proved that the reference materials can be used to evaluate the performance of nanopore sequencing in identifying thalassemia mutations, and it's necessary to incorporate triplicates when ...
Xingyu Wei, Xu Yang, Wanqing Han, Li Zhang, Guojun Ouyang, Shoufang Qu, Fang Yang, Xuexi Yang   +7 more
wiley   +1 more source

Correlation of Oxidative Stress with Serum Trace Element Levels and Antioxidant Enzyme Status in Beta Thalassemia Major Patients: A Review of the Literature

Anemia, 2012
Beta thalassemia major is an inherited disease resulting from reduction or total lack of beta globin chains. Patients with this disease need repeated blood transfusion for survival.
Q. Shazia, Z. H. Mohammad, Taibur Rahman, Hossain Uddin Shekhar   +3 more
doaj   +1 more source

Association between splenectomy and pulmonary hypertension in patients with major beta- thalassemia [PDF]

, 2017
Background and purpose: Increased pressure in the pulmonary circulation is of the major factors causing cardiac disorders in patients with thalassemia. The aim of this study was to investigate the relationship between splenectomy and pulmonary arterial ...
Ahmadi Soodejani, Seyede Soghra., Ahmadi, Ali., Ataie Kachoie, Masoomeh., Fekri, Kiavash., Malek Ahmadi, Mohammad Reza   +4 more
core  

Adolescents' and young adults' reactions to and perceived utility of carrier screening results in the context of a genomic research study

Journal of Genetic Counseling, Volume 34, Issue 3, June 2025.
Abstract Although guidelines have historically recommended deferring decisions about learning genomic information for conditions not actionable in childhood until adulthood, youth have increasing access to personal genomic information through research, clinical, and direct‐to‐consumer testing. However, little is known about young people's reactions to,
Haley N. Grimes, Michelle L. McGowan, Jessica A. Sinclair, Cynthia A. Prows, Ellen A. Lipstein, Melanie F. Myers   +5 more
wiley   +1 more source

Prevalence and Risk Factors for Complications in Patients with Nontransfusion Dependent Alpha- and Beta-Thalassemia

Anemia, 2015
Background. Nontransfusion dependent thalassemia (NTDT) is a milder form of thalassemia that does not require regular transfusion. It is associated with many complications, which differ from that found in transfusion-dependent thalassemia (TDT ...
Poramed Winichakoon, Adisak Tantiworawit, Thanawat Rattanathammethee, Sasinee Hantrakool, Chatree Chai-Adisaksopha, Ekarat Rattarittamrong, Lalita Norasetthada, Pimlak Charoenkwan   +7 more
doaj   +1 more source

Haemoglobin Q India (alpha 64(E13) aspartic acid histidine) associated with beta-thalassemia observed in three Sindhi families. [PDF]

, 1972
P. K. Sukumaran, S. M. Merchant, Mit Desai, B. Wiltshire, H. Lehmann   +4 more
openalex   +1 more source

Sickle Cell Disease in Africa: SickleInAfrica Registry in Ghana, Nigeria and Tanzania

eJHaem, Volume 6, Issue 3, June 2025.
ABSTRACT Introduction Sickle cell disease (SCD) is most prevalent in Sub‐Saharan Africa (SSA), where incomplete patient profiles and limited management strategies hinder research and healthcare standards. Methods We describe the first large‐scale and multinational assessment of 13,403 SCD patients enrolled from 2017–2021 across 31 facilities in Ghana ...
Jack Morrice, Wilson Mupfururirwa, Reuben I. Chianumba, Evans Xorse Amuzu, Daniel Kandonga, Victoria Nembaware, Mario Jonas, Jade Hotchkiss, Upendo Masamu, Arthemon Nguweneza, Bruno P. Mmbando, Irene Minja, Agnes Jonathan, Nicola Mulder, Emmanuel Balandya, Alex Osei‐Akoto, Vivian Paintsil, Julie Makani, Obiageli Nnodu, Members of SPARCO Nigeria, Raphael Z. Sangeda, Andre Pascal Kengne, Gaston Kuzamunu, Ambroise Wonkam   +23 more
wiley   +1 more source

Optimisation of the Danish national haemoglobinopathy screening programme – A prospective intervention study

eJHaem, Volume 6, Issue 3, June 2025.
Abstract Introduction The Danish national haemoglobinopathy screening programme offers screening to at‐risk pregnant women. Despite efforts to increase awareness of the screening programme, most women in the target population remain unscreened. In contrast, > 90% of pregnant women in Denmark attend a screening for chromosomal abnormalities by combined ...
Esther Agnethe Ejskjær Gravholt, Finn Stener Jørgensen, Charlotte Holm, Jesper Petersen, Amina Nardo‐Marino, Mathis Mottelson, Andreas Glenthøj   +6 more
wiley   +1 more source

Relation of Beta to Gamma Synthesis During the First Trimester: An Approach to Prenatal Diagnosis of Thalassemia [PDF]

, 1974
Gabriel Cividalli, David G. Nathan, Yuet Wai Kan, Bernardo A.G. Santamarina, Fredric D. Frigoletto   +4 more
openalex   +1 more source

Link Your Large Health Data Sets to the Area Deprivation Index, the ezADI Way

Research in Nursing &Health, Volume 48, Issue 3, Page 406-412, June 2025.
ABSTRACT Increasing attention has been paid to investigations on how social determinants of health (SDOH; e.g., income, employment, education, housing, etc.) impact health outcomes. However, these variables are often not collected in routine clinical practice.
Sunnie Reagan, Drew Prescott, Xueyuan Cao, Tyra Girdwood, Keesha Roach, Ansley Grimes Stanfill   +5 more
wiley   +1 more source