相似文献
1
Thalassemic hemoglobinopathies.地中海贫血血红蛋白病
Am J Pathol. 1983 Dec;113(3):396-409.
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Distinct phenotypic expression associated with a new hyperunstable alpha globin variant (Hb heraklion, alpha1cd37(C2)Pro>0): comparison to other alpha-thalassemic hemoglobinopathies.与一种新的高度不稳定α珠蛋白变体（Hb 伊拉克利翁，α1cd37(C2)Pro>0）相关的独特表型表达：与其他α地中海贫血血红蛋白病的比较。
Blood Cells Mol Dis. 2000 Aug;26(4):276-84. doi: 10.1006/bcmd.2000.0307.
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Molecular mechanisms of thalassemia in southeast Asia.东南亚地中海贫血的分子机制。
Southeast Asian J Trop Med Public Health. 1995;26 Suppl 1:235-40.
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Two missense mutations in the beta-globin gene can cause severe beta thalassemia. Hemoglobin Medicine Lake (beta 32[B14]leucine-->glutamine; 98 [FG5] valine-->methionine).β-珠蛋白基因中的两个错义突变可导致严重的β地中海贫血。血红蛋白梅迪辛湖（β32[B14]亮氨酸→谷氨酰胺；98[FG5]缬氨酸→甲硫氨酸）。
J Clin Invest. 1995 Feb;95(2):503-9. doi: 10.1172/JCI117691.
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A novel beta-delta globin gene fusion, anti-Lepore Hong Kong, leads to overexpression of delta globin chain and a mild thalassaemia intermedia phenotype when co-inherited with beta(0)-thalassaemia.一种新型的β-δ珠蛋白基因融合体——抗香港Lepore，与β⁰-地中海贫血共同遗传时，会导致δ珠蛋白链过度表达，并呈现轻度中间型地中海贫血表型。
Br J Haematol. 2007 Jan;136(1):158-62. doi: 10.1111/j.1365-2141.2006.06383.x.
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Beta-thalassemia syndromes.β地中海贫血综合征
Birth Defects Orig Artic Ser. 1987;23(5A):61-9.
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Hb Zoetermeer: a new mutation on the alpha2 gene inducing an Ala-->Ser substitution at codon 21 is possibly associated with a mild thalassemic phenotype.Hb 佐特梅尔：α2基因上的一个新突变导致第21密码子处丙氨酸被丝氨酸取代，可能与轻度地中海贫血表型相关。
Hemoglobin. 2007;31(3):325-32. doi: 10.1080/03630260701459374.
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Disorders of the synthesis of human fetal hemoglobin.人类胎儿血红蛋白合成障碍
IUBMB Life. 2008 Feb;60(2):94-111. doi: 10.1002/iub.4.
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delta-Thalassemic phenotype due to two "novel" delta-globin gene mutations: CD11[GTC-->GGC (A8)-HbA2-Pylos] and CD 85[TTT-->TCT(F1)-HbA2-Etolia].由两种“新型”δ-珠蛋白基因突变导致的δ-地中海贫血表型：CD11[GTC→GGC（A8）-HbA2-皮洛斯]和CD 85[TTT→TCT（F1）-HbA2-埃托利亚]
Hum Mutat. 1997;9(4):344-7. doi: 10.1002/(SICI)1098-1004(1997)9:4<344::AID-HUMU7>3.0.CO;2-5.
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Dominantly Inherited beta-Thalassemia.显性遗传性β地中海贫血
Hemoglobin. 2007;31(2):193-207. doi: 10.1080/03630260701290092.
引用本文的文献
1
Structural and clinical characterization of Hb Móstoles (HBA2:c.176A>G; p.His59Arg): a new unstable alpha-globin variant with thalassemic features.Hb Móstoles（HBA2:c.176A>G；p.His59Arg）的结构与临床特征：一种具有地中海贫血特征的新型不稳定α珠蛋白变体
Am J Blood Res. 2025 Jun 15;15(3):47-56. doi: 10.62347/PSSD1758. eCollection 2025.
2
HBE homozygous haemoglobinpathy - Fortuitous finding.HBE纯合血红蛋白病——偶然发现。
J Oral Maxillofac Pathol. 2022 Oct-Dec;26(4):580-582. doi: 10.4103/jomfp.jomfp_98_22. Epub 2022 Dec 22.
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Hematological Parameters and Demographic Distribution of Hemoglobinopathies and Various Hemoglobin Variants.血红蛋白病和各种血红蛋白变体的血液学参数及人口统计学分布
Cureus. 2022 Dec 29;14(12):e33115. doi: 10.7759/cureus.33115. eCollection 2022 Dec.
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Geographic weighted regression analysis of hot spots of anemia and its associated factors among children aged 6-59 months in Ethiopia: A geographic weighted regression analysis and multilevel robust Poisson regression analysis.地理加权回归分析埃塞俄比亚 6-59 月龄儿童贫血热点及其相关因素：地理加权回归分析和多层次稳健泊松回归分析。
PLoS One. 2021 Nov 4;16(11):e0259147. doi: 10.1371/journal.pone.0259147. eCollection 2021.
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Manipulation of Developmental Gamma-Globin Gene Expression: an Approach for Healing Hemoglobinopathies.调控发育性γ-珠蛋白基因表达：治疗血红蛋白病的一种方法。
Mol Cell Biol. 2020 Dec 21;41(1). doi: 10.1128/MCB.00253-20.
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Double heterozygocity for hemoglobin C and beta thalassemia dominant: A rare case of thalassemia intermedia.血红蛋白C与β地中海贫血显性双重杂合子：中间型地中海贫血的罕见病例。
Hematol Rep. 2018 Jan 3;9(4):7447. doi: 10.4081/hr.2017.7447. eCollection 2017 Dec 22.
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Hemoglobin Mississippi (beta 44ser----cys). Studies of the thalassemic phenotype in a mixed heterozygote with beta +-thalassemia.血红蛋白密西西比型（β44丝氨酸→半胱氨酸）。β+-地中海贫血复合杂合子的地中海贫血表型研究。
J Clin Invest. 1987 Mar;79(3):826-32. doi: 10.1172/JCI112890.
本文引用的文献
1
ABNORMAL HUMAN HEMOGLOBINS. X. A STUDY OF HEMOGLOBIN LEPORE BOSTON.异常人类血红蛋白。十。血红蛋白波士顿-莱波雷的研究。
Biochim Biophys Acta. 1965 Jan 4;97:37-46. doi: 10.1016/0304-4165(65)90267-9.
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The fusion of two peptide chains in hemoglobin Lepore and its interpretation as a genetic deletion.血红蛋白 Lepore 中两条肽链的融合及其作为基因缺失的解释。
Proc Natl Acad Sci U S A. 1962 Nov 15;48(11):1880-6. doi: 10.1073/pnas.48.11.1880.
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Studies on hemoglobin E. I. The clinical, hematologic, and genetic characteristics of the hemoglobin E syndromes.血红蛋白E的研究。一、血红蛋白E综合征的临床、血液学及遗传学特征
J Lab Clin Med. 1956 Mar;47(3):455-89.
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Defective synthesis of HbE is due to reduced levels of beta E mRNA.HbE合成缺陷是由于βE mRNA水平降低所致。
Nature. 1980 Dec 4;288(5790):497-9. doi: 10.1038/288497a0.
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Complete nucleotide sequence of the human delta-globin gene.人类δ-珠蛋白基因的完整核苷酸序列。
Cell. 1980 Oct;21(3):639-46. doi: 10.1016/0092-8674(80)90427-4.
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Human fetal G gamma- and A gamma-globin genes: complete nucleotide sequences suggest that DNA can be exchanged between these duplicated genes.人类胎儿Gγ-和Aγ-珠蛋白基因：完整的核苷酸序列表明，这些重复基因之间可发生DNA交换。
Cell. 1980 Oct;21(3):627-38. doi: 10.1016/0092-8674(80)90426-2.
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Homozygous hemoglobin E mimics beta-thalassemia minor without anemia or hemolysis: hematologic, functional, and biosynthetic studies of first North American cases.纯合子血红蛋白E模拟轻型β地中海贫血，无贫血或溶血：首例北美病例的血液学、功能及生物合成研究
Am J Hematol. 1980;8(1):109-21. doi: 10.1002/ajh.2830080112.
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Determination of alpha thalassaemia phenotypes by messenger RNA analysis.通过信使核糖核酸分析确定α地中海贫血表型
Br J Haematol. 1980 May;45(1):53-64. doi: 10.1111/j.1365-2141.1980.tb03810.x.
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Mapping the alpha-globin genes in an Algerian HbH patient and his family.对一名阿尔及利亚血红蛋白H病患者及其家族中的α-珠蛋白基因进行定位。
Blood. 1980 Mar;55(3):511-6.
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