Results 1 to 10 of about 872,130 (197)

HBB Gene Mutations and Their Pathological Impacts on HbE/β-Thalassaemia in Kuala Terengganu, Malaysia [PDF]

Diagnostics, 2023
Background: β-thalassaemia is a disorder caused by mutations in the β-globin gene, leading to defective production of haemoglobins (Hb) and red blood cells (RBCs). It is characterised by anaemia, ineffective erythropoiesis, and iron overload.
Hanan Kamel M. Saad, Wan Rohani Wan Taib, Azly Sumanty Ab Ghani, Imilia Ismail, Futoon Abedrabbu Al-Rawashde, Belal Almajali, Maysa Alhawamdeh, Alawiyah Awang Abd Rahman, Abdullah Saleh Al-wajeeh, Hamid Ali Nagi Al-Jamal   +9 more
doaj   +3 more sources

Direct correction of haemoglobin E β-thalassaemia using base editors [PDF]

Nature Communications, 2023
Haemoglobin E (HbE) β-thalassaemia causes approximately 50% of all severe thalassaemia worldwide; equating to around 30,000 births per year. HbE β-thalassaemia is due to a point mutation in codon 26 of the human HBB gene on one allele (GAG; glutamatic ...
Mohsin Badat, Ayesha Ejaz, Peng Hua, Siobhan Rice, Weijiao Zhang, Lance D. Hentges, Christopher A. Fisher, Nicholas Denny, Ron Schwessinger, Nirmani Yasara, Noemi B. A. Roy, Fadi Issa, Andi Roy, Paul Telfer, Jim Hughes, Sachith Mettananda, Douglas R. Higgs, James O. J. Davies   +17 more
doaj   +3 more sources

Serum erythropoietin and its determinants and associations in patients with haemoglobin E β-thalassaemia [PDF]

Scientific Reports
Erythropoietin is a hormone that stimulates erythropoiesis. The role of erythropoietin in the pathophysiology of HbE β-thalassaemia, a subtype of thalassaemia, is understudied.
Dinusha Amarasingha, Shiromi Perera, Anuja Premawardhena, Sachith Mettananda   +3 more
doaj   +3 more sources

Genetic and Epigenetic Therapies for β-Thalassaemia by Altering the Expression of α-Globin Gene [PDF]

Frontiers in Genome Editing, 2021
β-Thalassaemia is caused by over 300 mutations in and around the β-globin gene that lead to impaired synthesis of β-globin. The expression of α-globin continues normally, resulting in an excess of α-globin chains within red blood cells and their ...
Sachith Mettananda, Sachith Mettananda
doaj   +2 more sources

Efficacy and safety of thalidomide in β-thalassaemia: a systematic review and meta-analysis [PDF]

Scientific Reports
Thalidomide has shown promise as an adjunct therapy for β-thalassaemia, yet its effectiveness and safety are uncertain. This systematic review and meta-analysis evaluate the efficacy and safety of thalidomide in β-thalassaemia; in both transfusion ...
Nirmani Yasara, Sajith Thilakarathne, K. D. C. Perera, Anuja Premawardhena, Sachith Mettananda   +4 more
doaj   +2 more sources

The β-goblin gene architecture in individuals with and without sickle cell disease in Nigeria: Implications for β-thalassaemia trait diagnosis [PDF]

African Journal of Laboratory Medicine
Background: β-thalassaemia is considered rare in Africa; however, recent screening-based studies suggest a β-thalassaemia trait prevalence of 6% – 10% among individuals with sickle cell disease (SCD) and up to 25% in those without SCD.
Oluwatoyin A. Babalola, Biobele J. Brown, Foluke Fasola, Jing Zhang, Yonglan Zheng, Abayomi B. Odetunde, Adeyinka G. Falusi, Olufunmilayo Olopade   +7 more
doaj   +2 more sources

Prevalence of β-thalassaemia trait among school-going children in Jawadhi Hills: A School-based cross-sectional study [PDF]

Journal of Family Medicine and Primary Care
Objectives: Nearly 8.9% of the total Indian population is constituted by tribal groups. The burden of haemoglobinopathies, especially β-thalassaemia, is more prominent among these populations than non-tribal populations.
Sam M. David, Eunice Sindhuvi, Midhun Sasikumar, D. Beula, Anuradha Rose, Kuryan George, S. Shanthi, Biju George   +7 more
doaj   +2 more sources

Economic burden of adult patients with β-thalassaemia major in mainland China [PDF]

Orphanet Journal of Rare Diseases, 2023
Background β-thalassaemia major poses a substantial economic burden, especially in adults. We aimed to estimate the economic burden of adult patients with β-thalassaemia major from a societal perspective using the real-world data.
Xuemei Zhen, Jing Ming, Runqi Zhang, Shuo Zhang, Jing Xie, Baoguo Liu, Zijing Wang, Xiaojie Sun, Lizheng Shi   +8 more
doaj   +2 more sources

Cognitive impairment and hippocampal neuronal damage in β-thalassaemia mice [PDF]

Scientific Reports
β-Thalassaemia is one of the most common genetic diseases worldwide. During the past few decades, life expectancy of patients has increased significantly owing to advance in medical treatments. Cognitive impairment, once has been neglected, has gradually
Nuttanan Pholngam, Parinda Jamrus, Kittikun Viwatpinyo, Benjaporn Kiatpakdee, Jim Vadolas, Pornthip Chaichompoo, Sukonthar Ngampramuan, Saovaros Svasti   +7 more
doaj   +2 more sources

Health related quality of life among children with transfusion dependent β-thalassaemia major and haemoglobin E β-thalassaemia in Sri Lanka: a case control study [PDF]

Health and Quality of Life Outcomes, 2019
Background Thalassaemia is a chronic disease without an effective cure in a majority. The clinical management has improved considerably during recent years; however, minimal attempts are made to up lift the quality of life among patients, especially in ...
Sachith Mettananda, Hashan Pathiraja, Ravindu Peiris, Dayananda Bandara, Udaya de Silva, Chamila Mettananda, Anuja Premawardhena   +6 more
doaj   +2 more sources