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胎儿血红蛋白遗传性持续存在。

Hereditary persistence of fetal hemoglobin.

作者信息

Sharma Dharmesh Chandra, Singhal Sachin, Woike Poonam, Rai Sunita, Yadav Mahesh, Gaur Rajesh

机构信息

Department of Pathology, Blood Bank, Component and Aphaeresis Unit, G. R. Medical College, Gwalior, Madhya Pradesh, India.

Lal Pathology, SDM Road, Gwalior, Madhya Pradesh, India.

出版信息

Asian J Transfus Sci. 2020 Jul-Dec;14(2):185-186. doi: 10.4103/ajts.AJTS_71_16. Epub 2020 Dec 19.

DOI:10.4103/ajts.AJTS_71_16
PMID:33767547
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC7983139/
Abstract

Hereditary persistence of fetal hemoglobin (HPFH) is a benign condition in which significant fetal hemoglobin production continues well into adulthood, disregarding the normal shutoff point after which only adult-type hemoglobin should be produced. The percentage of incorrect expression might be as low as 10%-15% or as high as 100% of the total hemoglobin, usually higher in homozygotes than in heterozygotes. The present case is a typical example of homozygous HPFH.

摘要

胎儿血红蛋白遗传性持续存在（HPFH）是一种良性病症，其中胎儿血红蛋白的大量产生会持续到成年期，无视正常的关闭点，正常情况下超过该点后仅应产生成人型血红蛋白。错误表达的百分比可能低至总血红蛋白的10%-15%，也可能高达100%，通常纯合子中的比例高于杂合子。本病例是纯合子HPFH的典型例子。

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1
Hereditary persistence of fetal hemoglobin.胎儿血红蛋白遗传性持续存在。
Asian J Transfus Sci. 2020 Jul-Dec;14(2):185-186. doi: 10.4103/ajts.AJTS_71_16. Epub 2020 Dec 19.
2
G gamma beta+ hereditary persistence of fetal hemoglobin: cosmid cloning and identification of a specific mutation 5' to the G gamma gene.Gγβ⁺遗传性胎儿血红蛋白持续存在：黏粒克隆及Gγ基因5'端特定突变的鉴定
Proc Natl Acad Sci U S A. 1984 Aug;81(15):4894-8. doi: 10.1073/pnas.81.15.4894.
3
The synthesis of fetal hemoglobin types in red blood cells and in BFU-E derived colonies from peripheral blood of patients with sickle cell anemia, beta+ - and delta beta-thalassemia, various forms of hereditary persistence of fetal hemoglobin, normal adults and newborn.镰状细胞贫血、β+和δβ地中海贫血患者、各种形式胎儿血红蛋白遗传性持续存在患者、正常成年人及新生儿外周血红细胞和BFU-E衍生集落中胎儿血红蛋白类型的合成。
Hemoglobin. 1979;3(4):223-52. doi: 10.3109/03630267908996900.
4
Homozygotes for the hereditary persistence of fetal hemoglobin: the ratio of G gamma to A gamma chains and biosynthetic studies.胎儿血红蛋白遗传性持续存在的纯合子：Gγ与Aγ链的比例及生物合成研究
Biochem Genet. 1977 Dec;15(11-12):1083-96. doi: 10.1007/BF00484499.
5
beta Thalassemia associated with increased HB F production. Evidence for the existence of a heterocellular hereditary persistence of fetal hemoglobin (HPFH) determinant linked to beta thalassemia in a southern Italian population.与血红蛋白F（HB F）生成增加相关的β地中海贫血。在意大利南部人群中存在与β地中海贫血相关的胎儿血红蛋白（HPFH）决定簇异细胞遗传性持续存在的证据。
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Molecular mechanism of high hemoglobin F production in Southeast Asian-type hereditary persistence of fetal hemoglobin.东南亚型胎儿血红蛋白遗传性持续存在中高胎儿血红蛋白产生的分子机制。
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Fetal hemoglobin synthesis in erythroid cultures in hereditary persistence of fetal hemoglobin and beta o-thalassemia.胎儿血红蛋白在遗传性胎儿血红蛋白持续存在和β⁰地中海贫血的红系培养物中的合成。
Blood. 1984 Jun;63(6):1278-84.
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A comparative study of Greek nondeletional hereditary persistence of fetal hemoglobin and beta-thalassemia compound heterozygotes.希腊非缺失型胎儿血红蛋白遗传性持续存在与β地中海贫血复合杂合子的比较研究。
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Blessing in disguise; a case of Hereditary Persistence of Fetal Hemoglobin.因祸得福；一例胎儿血红蛋白遗传性持续存在症
J Community Hosp Intern Med Perspect. 2018 Dec 11;8(6):380-381. doi: 10.1080/20009666.2018.1536241. eCollection 2018.
10
Concordance of a point mutation 5' to the A gamma-globin gene with A gamma beta + hereditary persistence of fetal hemoglobin in Greeks.希腊人中，位于Aγ-珠蛋白基因5'端的一个点突变与Aγβ⁺遗传性胎儿血红蛋白持续存在的一致性。
Blood. 1986 Feb;67(2):551-4.

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本文引用的文献

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Molecular characterization of delta beta-thalassemia and hereditary persistence of fetal hemoglobin in the Indian population.印度人群中δβ地中海贫血和胎儿血红蛋白遗传性持续存在的分子特征
Hemoglobin. 2008;32(5):425-33. doi: 10.1080/03630260802341687.
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Hereditary persistence of foetal haemoglobin in a tribal family of Orissa, India.印度奥里萨邦一个部落家庭中的胎儿血红蛋白遗传性持续存在。
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Hereditary persistence of fetal hemoglobin. A family study.胎儿血红蛋白遗传性持续存在。一项家族研究。
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Hereditary persistence of foetal haemoglobin: a family study suggesting allelism of the F gene to the S and C haemoglobin genes.胎儿血红蛋白遗传性持续存在：一项家族研究提示F基因与S和C血红蛋白基因的等位性。
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Two families showing interaction of haemoglobin C or thalassaemia with high foetal haemoglobin in adults.两个家庭显示成人中血红蛋白C或地中海贫血与高胎儿血红蛋白的相互作用。
Br Med J. 1961 May 20;1(5237):1434-6. doi: 10.1136/bmj.1.5237.1434.
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