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Select item 112039271.

Support Vector Machine-Based Formula for Detecting Suspected α Thalassemia Carriers: A Path toward Universal Screening

Idit Lachover-Roth, Sari Peretz, Hiba Zoabi, Eitam Harel, Leonid Livshits, Dvora Filon, Carina Levin, Ariel Koren

Int J Mol Sci. 2024 Jun; 25(12): 6446. Published online 2024 Jun 11. doi: 10.3390/ijms25126446

PMCID:: PMC11203927

Abstract Article PDF–428K

Select item 111833282.

Routine antenatal molecular testing for α-thalassemia at a tertiary referral hospital in China: ten years of experience

Dongming Li, Lifang Liang, Dahua Meng, Sheng He

Front Genet. 2024; 15: 1416047. Published online 2024 Jun 4. doi: 10.3389/fgene.2024.1416047

PMCID:: PMC11183328

Abstract Article PDF–995K

Select item 111823983.

Systematic review and evidence gap assessment of the clinical, quality of life, and economic burden of alpha‐thalassemia

Khaled M. Musallam, Vip Viprakasit, Louise Lombard, Keely Gilroy, Amey Rane, Lydia Vinals, Candice Tam, Maria Rizzo, Thomas D. Coates

EJHaem. 2024 Jun; 5(3): 541–547. Published online 2024 Apr 2. doi: 10.1002/jha2.882

PMCID:: PMC11182398

Abstract Article PDF–642K

Select item 111006114.

Dual α-globin and truncated EPO receptor knockin restores hemoglobin production in α-thalassemia-derived red blood cells

Simon N. Chu, Eric Soupene, Beeke Wienert, Han Yin, Devesh Sharma, Travis McCreary, Kun Jia, Shota Homma, Jessica P. Hampton, James M. Gardner, Bruce R. Conklin, Tippi C. MacKenzie, Matthew H. Porteus, M. Kyle Cromer

Version 2. bioRxiv. Preprint. 2024 May 7. doi: 10.1101/2023.09.01.555926

PMCID:: PMC11100611

Abstract Article PDF–9.5M

Select item 110946745.

Interplay between α‐thalassemia and β‐hemoglobinopathies: Translating genotype–phenotype relationships into therapies

Jim Vadolas, Tiwaporn Nualkaew, Hsiao P. J. Voon, Shahla Vilcassim, George Grigoriadis

Hemasphere. 2024 May; 8(5): e78. Published online 2024 May 15. doi: 10.1002/hem3.78

PMCID:: PMC11094674

Abstract Article PDF–1.6M

Select item 110897836.

Third-generation sequencing identified a novel complex variant in a patient with rare alpha-thalassemia

Cong Zhou, Yepei Du, Haixia Zhang, Xing Wei, Rui Li, Jing Wang

BMC Pediatr. 2024; 24: 330. Published online 2024 May 13. doi: 10.1186/s12887-024-04811-1

PMCID:: PMC11089783

Abstract Article PDF–2.5M

Select item 110703867.

Ancestry of the major long-range regulatory site of the α-globin genes in the Portuguese population with the common 3.7 kb α-thalassemia deletion

Rita Pena, Pedro Lopes, Gisela Gaspar, Armandina Miranda, Paula Faustino

Mol Biol Rep. 2024; 51(1): 612. Published online 2024 May 5. doi: 10.1007/s11033-024-09530-5

PMCID:: PMC11070386

Abstract Article PDF–1.8M

Select item 110401288.

Secondary hemophagocytic syndrome in an acquired immunodeficiency syndrome and Alpha-thalassemia patient infected with Talaromyces marneffei: A case report and literature review

Qingqing Wu, Yixiu Yu, Shenhong Feng, Bingqian Fang, Renzhi Zheng, Weidong Sun, Jianzhi Zhao

IDCases. 2024; 36: e01954. Published online 2024 Apr 15. doi: 10.1016/j.idcr.2024.e01954

PMCID:: PMC11040128

Abstract Article PDF–1.3M

Select item 109577679.

Appropriate whole genome amplification and pathogenic loci detection can improve the accuracy of preimplantation genetic diagnosis for deletional α-thalassemia

Yueyun Lan, Hong Zhou, Sheng He, Jinhui Shu, Lifang Liang, Hongwei Wei, Jingsi Luo, Caizhu Wang, Xin Zhao, Qingming Qiu, Peng Huang

Front Endocrinol (Lausanne) 2023; 14: 1176063. Published online 2024 Mar 8. doi: 10.3389/fendo.2023.1176063

PMCID:: PMC10957767

Abstract Article PDF–1.2M

Select item 1095474510.

Abnormal hemoglobin anti-Lepore Hong Kong compound with β⁰-thalassemia ameliorate thalassemia severity when co-inherited with α-thalassemia

Xiuqin Bao, Jicheng Wang, Danqing Qin, Cuize Yao, Jie Liang, Kailing Liang, Li Du

Sci Rep. 2024; 14: 6682. Published online 2024 Mar 20. doi: 10.1038/s41598-024-56921-6

PMCID:: PMC10954745

Abstract Article PDF–3.6M

Select item 1078404711.

A fusion model integrating magnetic resonance imaging radiomics and deep learning features for predicting alpha-thalassemia X-linked intellectual disability mutation status in isocitrate dehydrogenase–mutant high-grade astrocytoma: a multicenter study

Zhi Liu, Xinyi Xu, Wang Zhang, Liqiang Zhang, Ming Wen, Jueni Gao, Jun Yang, Yubo Kan, Xing Yang, Zhipeng Wen, Shanxiong Chen, Xu Cao

Quant Imaging Med Surg. 2024 Jan 3; 14(1): 251–263. Published online 2024 Jan 2. doi: 10.21037/qims-23-807

PMCID:: PMC10784047

Abstract Article PDF–1.0M

Select item 1070213412.

A comprehensive preimplantation genetic testing approach for SEA-type α-thalassemia by fluorescent gap-polymerase chain reaction combined with haplotype analysis

Jing Wang, Yuanlin Ma, Jing Guo, Rong Li, Canquan Zhou, Yanwen Xu

Front Genet. 2023; 14: 1248358. Published online 2023 Nov 23. doi: 10.3389/fgene.2023.1248358

PMCID:: PMC10702134

Abstract Article PDF–1.1M

Select item 1063682213.

Molecular patterns of alpha-thalassemia in the kingdom of Saudi Arabia: identification of prevalent genotypes and regions with high incidence

Hayaa M. Alhuthali, Eman F. Ataya, Alaa Alsalmi, Triq E Elmissbah, Khalaf F Alsharif, Hind A. Alzahrani, Ahad Amer Alsaiari, Mamdouh Allahyani, Amal F. Gharib, Husam Qanash, Heba M. Elmasry, Doha Elsayed Hassanein

Thromb J. 2023; 21: 115. Published online 2023 Nov 10. doi: 10.1186/s12959-023-00560-w

PMCID:: PMC10636822

Abstract Article PDF–838K

Select item 1055754614.

Hemoglobin profile and molecular characteristics of the complex interaction of hemoglobin Doi-Saket [α9(A7) asn > lys, HBA2:c.30C > a], a novel α2α1 hybrid globin variant, with hemoglobin E [β26(B8) Glu > lys, HBB:c.79G > A] and deletional α⁺-thalassemia in a Thai family

Sitthichai Panyasai, Kunyakan Khongthai, Surada Satthakarn

Ann Med. 2023; 55(2): 2264174. Published online 2023 Oct 5. doi: 10.1080/07853890.2023.2264174

PMCID:: PMC10557546

Abstract Article PDF–3.0M

Select item 1054791015.

Causal links of α-thalassemia indices and cardiometabolic traits and diabetes: MR study

Lung-An Hsu, Semon Wu, Ming-Sheng Teng, Yu-Lin Ko

Life Sci Alliance. 2023 Dec; 6(12): e202302204. Published online 2023 Oct 3. doi: 10.26508/lsa.202302204

PMCID:: PMC10547910

Abstract Article PDF–2.2M

Select item 1027687316.

Revisiting and updating molecular epidemiology of α-thalassemia mutations in Thailand using MLPA and new multiplex gap-PCR for nine α-thalassemia deletion

Wittaya Jomoui, Sitthichai Panyasai, Pornpun Sripornsawan, Wanicha Tepakhan

Sci Rep. 2023; 13: 9850. Published online 2023 Jun 17. doi: 10.1038/s41598-023-36840-8

PMCID:: PMC10276873

Abstract Article PDF–1.4M

Select item 1020230317.

Functional analysis of three new alpha-thalassemia deletions involving MCS-R2 reveals the presence of an additional enhancer element in the 5’ boundary region

Serena Capasso, Giovanna Cardiero, Gennaro Musollino, Romeo Prezioso, Rosario Testa, Sabrina Dembech, Giulio Piluso, Vincenzo Nigro, F. Anna Digilio, Giuseppina Lacerra

PLoS Genet. 2023 May; 19(5): e1010727. Published online 2023 May 22. doi: 10.1371/journal.pgen.1010727

PMCID:: PMC10202303

Abstract Article PDF–2.6M

Select item 1007345318.

An analysis of the distribution and spectrum of alpha thalassemia mutations in Rasht City, North of Iran

Mona Asghari Ahmadabad, Noushin Pourreza, Setareh Ramezanpour, Adel Baghersalimi, Mersedeh Enshaei, Marjan Askari, Amirhossein Alizadeh, Elahe Izadi, Bahram Darbandi

Front Pediatr. 2023; 11: 1039148. Published online 2023 Mar 22. doi: 10.3389/fped.2023.1039148