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α-地中海贫血症。

The α-thalassemias.

出版信息

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

DOI:10.1056/NEJMra1404415
PMID:25390741
Abstract

More than 100 varieties of α-thalassemia have been identified. Their geographic distribution and the challenges associated with screening, diagnosis, and management suggest that α-thalassemias should have a higher priority on global public health agendas.

摘要

已经发现了 100 多种 α-地中海贫血。它们的地理分布以及与筛查、诊断和管理相关的挑战表明，α-地中海贫血应该在全球公共卫生议程中具有更高的优先级。

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[1]
The α-thalassemias.

N Engl J Med. 2014-11-13

[2]
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[3]
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[4]
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[5]
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[7]
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[8]
[A study on gene mutation spectrums of α- and β-thalassemias in populations of Yunnan Province and the prenatal gene diagnosis].

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[9]
Alpha and beta thalassemias in Hong Kong.

Chin Med J (Engl). 1997-6

[10]
[Genetic diagnosis of thalassemia mutations with free fetal DNA in pregnant plasma].

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引用本文的文献

[1]
Development of a low-cost and high-throughput LC-MS method for newborn screening of thalassemia and abnormal hemoglobin disorders.

World J Pediatr. 2025-9-1

[2]
Multiclass classification of thalassemia types using complete blood count and HPLC data with machine learning.

Sci Rep. 2025-7-21

[3]
Accuracy of Red Blood Cell Parameters in Predicting α-Thalassemia Trait Among Non-Anemic Males.

J Clin Med. 2025-5-21

[4]
Applying the National Genomic DNA Reference Materials to Evaluate the Performance of Nanopore Sequencing in Identifying Thalassemia Variants.

J Clin Lab Anal. 2025-6

[5]
Alpha+ Thalassemia in Northwestern Tanzania: Molecular and Hematological Insights From Newborn Screening.

J Blood Med. 2025-5-15

[6]
Detection of a novel large fragment deletion in the alpha-globin gene cluster using the CNVplex technology.

Front Genet. 2025-3-10

[7]
Prevalence and molecular spectrum of thalassemia in infertile population among different ethnic groups in Hainan Province, China.

Mol Genet Genomics. 2025-3-7

[8]
The impact of various types of α-thalassemia on perinatal complications and pregnancy outcomes in pregnant women.

Ann Hematol. 2025-3

[9]
Comprehensive analysis of a-and b-thalassemia genotypes and hematologic phenotypes.

J Med Biochem. 2025-1-24

[10]
An unusual transfusion-dependent hemoglobin H disease caused by a novel complex inverted duplication involving the α-globin regulatory elements and α-thalassemia--SEA deletion.

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