使用基于回归分析的评分系统对591例血红蛋白H病患者队列的临床严重程度进行定量评估。 - Suppr

Quantitative evaluation of the clinical severity of hemoglobin H disease in a cohort of 591 patients using a scoring system based on regression analysis.

作者信息

Liu Yumeng, Zhuang Yuan, Chen Jianhong, Zhong Zeyan, Fang Jianpei, Li Xinyu, Xiao Bin, Li Pingping, Lin Bin, Tao Zhenzhong, Liang Yidan, Lin Peng, Wang Xingmin, Song Mengyang, Luo Hualei, Qin Lang, Huang Li, Tan Jufang, Li Hailiang, Zhong Tianyu, Yu Lian, Liu Zhixiang, Tang Deguo, Zhao Yongzhong, Zhang Xinhua, Ye Yuhua, Xu Xiangmin

机构信息

Innovation Center for Diagnostics and Treatment of Thalassemia, Nanfang Hospital, Southern Medical University, Guangzhou 510515, Guangdong, China; Department of Medical Genetics, School of Basic Medical Sciences, Southern Medical University, Guangzhou 510515, Guangdong.

Department of Medical Genetics and Prenatal Diagnosis, Huizhou First Maternal and Child Health Care Hospital, Huizhou, Guangdong, 516001.

出版信息

Haematologica. 2024 Feb 1;109(2):632-638. doi: 10.3324/haematol.2023.283211.

DOI:10.3324/haematol.2023.283211

PMID:37646667

原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC10828758/

Abstract

摘要

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Quantitative evaluation of the clinical severity of hemoglobin H disease in a cohort of 591 patients using a scoring system based on regression analysis.

Haematologica. 2024 Feb 1;109(2):632-638. doi: 10.3324/haematol.2023.283211.

Severity scoring system to guide transfusion management in pediatric non-deletional HbH.

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Hemoglobin SE disease in Maine, and severe thalassemia in New Hampshire.

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Genetic and clinical features of hemoglobin H disease in Chinese patients.

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Molecular diagnosis of α-thalassemia in a multiethnic population.

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

Int J Environ Res Public Health. 2020 Oct 9;17(20):7354. doi: 10.3390/ijerph17207354.

The Evolving Spectrum of the Epidemiology of Thalassemia.

Hematol Oncol Clin North Am. 2018 Apr;32(2):165-175. doi: 10.1016/j.hoc.2017.11.008.

Rapid Targeted Next-Generation Sequencing Platform for Molecular Screening and Clinical Genotyping in Subjects with Hemoglobinopathies.

EBioMedicine. 2017 Sep;23:150-159. doi: 10.1016/j.ebiom.2017.08.015. Epub 2017 Aug 17.

Thalassaemia.

Lancet. 2018 Jan 13;391(10116):155-167. doi: 10.1016/S0140-6736(17)31822-6. Epub 2017 Jul 31.

The α-thalassemias.

N Engl J Med. 2014 Nov 13;371(20):1908-16. doi: 10.1056/NEJMra1404415.

World distribution, population genetics, and health burden of the hemoglobinopathies.

Cold Spring Harb Perspect Med. 2012 Sep 1;2(9):a011692. doi: 10.1101/cshperspect.a011692.

Heterogeneity of hemoglobin H disease in childhood.

N Engl J Med. 2011 Feb 24;364(8):710-8. doi: 10.1056/NEJMoa1010174.

Molecular epidemiological survey of haemoglobinopathies in the Guangxi Zhuang Autonomous Region of southern China.

Clin Genet. 2010 Aug;78(2):139-48. doi: 10.1111/j.1399-0004.2010.01430.x. Epub 2010 Apr 19.

A scoring system for the classification of beta-thalassemia/Hb E disease severity.

Am J Hematol. 2008 Jun;83(6):482-4. doi: 10.1002/ajh.21130.

Genetic and clinical features of hemoglobin H disease in Chinese patients.

N Engl J Med. 2000 Aug 24;343(8):544-50. doi: 10.1056/NEJM200008243430804.

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Quantitative evaluation of the clinical severity of hemoglobin H disease in a cohort of 591 patients using a scoring system based on regression analysis.

作者信息

机构信息

Department of Medical Genetics and Prenatal Diagnosis, Huizhou First Maternal and Child Health Care Hospital, Huizhou, Guangdong, 516001.

出版信息

Haematologica. 2024 Feb 1;109(2):632-638. doi: 10.3324/haematol.2023.283211.

DOI:10.3324/haematol.2023.283211

PMID:37646667

原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC10828758/

Abstract

摘要

相似文献

Quantitative evaluation of the clinical severity of hemoglobin H disease in a cohort of 591 patients using a scoring system based on regression analysis.

Haematologica. 2024 Feb 1;109(2):632-638. doi: 10.3324/haematol.2023.283211.

Severity scoring system to guide transfusion management in pediatric non-deletional HbH.

Pediatr Int. 2023 Jan-Dec;65(1):e15568. doi: 10.1111/ped.15568.

Analysis of Hb levels and degree of anemia in relation to genotype in 615 patients with hemoglobin H disease.

Expert Rev Hematol. 2020 Sep;13(9):1027-1033. doi: 10.1080/17474086.2020.1803736. Epub 2020 Aug 11.

The correlation of α-globin gene mutations and the XmnI polymorphism with clinical severity of Hb E/β-thalassemia.

Hemoglobin. 2014;38(5):335-8. doi: 10.3109/03630269.2014.952744. Epub 2014 Sep 19.

Sickle cell anemia and α-thalassemia: a modulating factor in homozygous HbS/S patients in Oman.

Eur J Med Genet. 2014 Nov-Dec;57(11-12):603-6. doi: 10.1016/j.ejmg.2014.09.005. Epub 2014 Sep 28.

Changes in hematological parameters in α-thalassemia individuals co-inherited with erythroid Krüppel-like factor mutations.

Clin Genet. 2015 Jul;88(1):56-61. doi: 10.1111/cge.12443. Epub 2014 Jul 26.

Bone Mineral Density and Dickkopf-1 in Adolescents with Non-Deletional Hemoglobin H Disease.

J Clin Densitom. 2023 Jul-Sep;26(3):101379. doi: 10.1016/j.jocd.2023.101379. Epub 2023 Apr 26.

Hemoglobin SE disease in Maine, and severe thalassemia in New Hampshire.

J Pediatr Hematol Oncol. 2009 Apr;31(4):307. doi: 10.1097/MPH.0b013e31819af9db.

Genetic and clinical features of hemoglobin H disease in Chinese patients.

N Engl J Med. 2000 Aug 24;343(8):544-50. doi: 10.1056/NEJM200008243430804.

Molecular diagnosis of α-thalassemia in a multiethnic population.

Eur J Haematol. 2017 Jun;98(6):553-562. doi: 10.1111/ejh.12866. Epub 2017 Apr 6.

引用本文的文献

Haemoglobin (Hb) AE Bart's Disease in a Young Patient: A Case Report.

Cureus. 2024 Dec 23;16(12):e76277. doi: 10.7759/cureus.76277. eCollection 2024 Dec.

Investigation of the Influence of Deletional and Non-Deletional Hemoglobin H Disease on Pregnancy Outcomes.

Int J Womens Health. 2025 Jan 6;17:1-7. doi: 10.2147/IJWH.S497671. eCollection 2025.

Efficient and correction of hemoglobin Constant Spring mutation by prime editing in human hematopoietic cells.

Mol Ther Nucleic Acids. 2024 Oct 28;35(4):102371. doi: 10.1016/j.omtn.2024.102371. eCollection 2024 Dec 10.

本文引用的文献

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

Int J Environ Res Public Health. 2020 Oct 9;17(20):7354. doi: 10.3390/ijerph17207354.

The Evolving Spectrum of the Epidemiology of Thalassemia.

Hematol Oncol Clin North Am. 2018 Apr;32(2):165-175. doi: 10.1016/j.hoc.2017.11.008.

Rapid Targeted Next-Generation Sequencing Platform for Molecular Screening and Clinical Genotyping in Subjects with Hemoglobinopathies.

EBioMedicine. 2017 Sep;23:150-159. doi: 10.1016/j.ebiom.2017.08.015. Epub 2017 Aug 17.

Thalassaemia.

Lancet. 2018 Jan 13;391(10116):155-167. doi: 10.1016/S0140-6736(17)31822-6. Epub 2017 Jul 31.

The α-thalassemias.

N Engl J Med. 2014 Nov 13;371(20):1908-16. doi: 10.1056/NEJMra1404415.

World distribution, population genetics, and health burden of the hemoglobinopathies.

Cold Spring Harb Perspect Med. 2012 Sep 1;2(9):a011692. doi: 10.1101/cshperspect.a011692.

Heterogeneity of hemoglobin H disease in childhood.

N Engl J Med. 2011 Feb 24;364(8):710-8. doi: 10.1056/NEJMoa1010174.

Molecular epidemiological survey of haemoglobinopathies in the Guangxi Zhuang Autonomous Region of southern China.

Clin Genet. 2010 Aug;78(2):139-48. doi: 10.1111/j.1399-0004.2010.01430.x. Epub 2010 Apr 19.

A scoring system for the classification of beta-thalassemia/Hb E disease severity.

Am J Hematol. 2008 Jun;83(6):482-4. doi: 10.1002/ajh.21130.

Genetic and clinical features of hemoglobin H disease in Chinese patients.

N Engl J Med. 2000 Aug 24;343(8):544-50. doi: 10.1056/NEJM200008243430804.

Quantitative evaluation of the clinical severity of hemoglobin H disease in a cohort of 591 patients using a scoring system based on regression analysis.

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Quantitative evaluation of the clinical severity of hemoglobin H disease in a cohort of 591 patients using a scoring system based on regression analysis.

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