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由β珠蛋白基因的c.46delT [密码子15（-T）]突变与HPFH3的罕见组合导致的中间型地中海贫血表型。

Thalassemia intermedia phenotype resulting from rare combination of c.46delT [Codon15 (-T)] mutation of beta globin gene and HPFH3.

作者信息

Kelkar Anjali J, Moses Anu

机构信息

Bharati Vidyapeeth University Medical College & Hospital Pune Maharashtra India.

出版信息

Clin Case Rep. 2017 May 26;5(7):1107-1110. doi: 10.1002/ccr3.990. eCollection 2017 Jul.

DOI:10.1002/ccr3.990
PMID:28680605
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC5494391/
Abstract

The beta thalassemia intermedia phenotype has several genotypes. Hematological and molecular diagnostic approach and logical and sequential conduct of various investigations are necessary for the diagnosis of these disorders. Close observations of the genotype-phenotype correlation will provide a better insight for the development of molecular therapy.

摘要

中间型β地中海贫血表型有多种基因型。血液学和分子诊断方法以及各种检查的合理有序开展对于这些疾病的诊断是必要的。密切观察基因型与表型的相关性将为分子治疗的发展提供更好的见解。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/a94f/5494391/9f4357efffcf/CCR3-5-1107-g003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/a94f/5494391/bfe26de547ee/CCR3-5-1107-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/a94f/5494391/615ff11b92a6/CCR3-5-1107-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/a94f/5494391/9f4357efffcf/CCR3-5-1107-g003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/a94f/5494391/bfe26de547ee/CCR3-5-1107-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/a94f/5494391/615ff11b92a6/CCR3-5-1107-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/a94f/5494391/9f4357efffcf/CCR3-5-1107-g003.jpg

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1
Thalassemia intermedia phenotype resulting from rare combination of c.46delT [Codon15 (-T)] mutation of beta globin gene and HPFH3.由β珠蛋白基因的c.46delT [密码子15（-T）]突变与HPFH3的罕见组合导致的中间型地中海贫血表型。
Clin Case Rep. 2017 May 26;5(7):1107-1110. doi: 10.1002/ccr3.990. eCollection 2017 Jul.
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引用本文的文献

1
Hb Knossos (HBB: c.82G > T), β-globin CD 5 (-CT) (HBB: c.17_18delCT) and δ-globin CD 59 (-a) (HBD: c.179delA) mutations in a Syrian patient with β-thalassemia intermedia.一位叙利亚中间型β-地中海贫血患者存在 Hb Knossos（HBB：c.82G>T）、β-珠蛋白基因 CD5-CT（HBB：c.17_18delCT）和 δ-珠蛋白基因 CD59-a（HBD：c.179delA）突变。
BMC Pediatr. 2019 Feb 18;19(1):61. doi: 10.1186/s12887-019-1435-5.

本文引用的文献

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Thalassemia beta0 due to an identical frameshift mutation, codon 15 (-T) in both parents.由于父母双方均存在相同的移码突变（密码子15，-T）导致的β0型地中海贫血。
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Rapid and simultaneous typing of hemoglobin S, hemoglobin C, and seven Mediterranean beta-thalassemia mutations by covalent reverse dot-blot analysis: application to prenatal diagnosis in Sicily.通过共价反向斑点杂交分析法快速同步检测血红蛋白S、血红蛋白C及七种地中海β-地中海贫血突变：在西西里岛产前诊断中的应用
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Rapid detection of deletions causing delta beta thalassemia and hereditary persistence of fetal hemoglobin by enzymatic amplification.
通过酶促扩增快速检测导致δ型β地中海贫血和胎儿血红蛋白遗传性持续存在的缺失。
Blood. 1994 Mar 15;83(6):1673-82.
4
Heterogeneity in the molecular basis of three types of hereditary persistence of fetal hemoglobin and the relative synthesis of the G gamma and A gamma types of gamma chain.三种类型胎儿血红蛋白遗传性持续存在的分子基础异质性以及γ链的Gγ和Aγ类型的相对合成
Biochem Genet. 1984 Feb;22(1-2):21-35. doi: 10.1007/BF00499284.
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Br J Haematol. 1973 Jul;25(1):131-5. doi: 10.1111/j.1365-2141.1973.tb01722.x.
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Molecular characterization and nonradioactive detection of beta-thalassemia in Malaysia.
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Identification of five rare mutations including a novel frameshift mutation causing beta zero-thalassemia in Thai patients with beta zero-thalassemia/hemoglobin E disease.在泰国β0地中海贫血/血红蛋白E病患者中鉴定出5种罕见突变，其中包括一种导致β0地中海贫血的新型移码突变。
Biochim Biophys Acta. 1992 Aug 25;1139(4):280-6. doi: 10.1016/0925-4439(92)90101-r.