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.
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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本文引用的文献
1
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.
2
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。
Natl Med J India. 2004 May-Jun;17(3):138-40.
3
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。
Am J Med. 1960 Jul;29:9-17. doi: 10.1016/0002-9343(60)90003-6.
4
Expression of the sickle-cell gene in Africa.镰状细胞基因在非洲的表达。
Br Med J. 1955 May 28;1(4925):1308-11. doi: 10.1136/bmj.1.4925.1308.
5
The homozygous state of persistent fetal hemoglobin and the interaction of persistent fetal hemoglobin with thalassemia.持续性胎儿血红蛋白的纯合状态以及持续性胎儿血红蛋白与地中海贫血的相互作用。
Bull Johns Hopkins Hosp. 1961 Nov;109:217-33.
6
Studies on the fetal hemoglobin in the persistent high Hb-F anomaly.持续性高胎儿血红蛋白异常中的胎儿血红蛋白研究。
Blood. 1961 Sep;18:267-84.
7
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。
Br J Haematol. 1961 Jul;7:373-81. doi: 10.1111/j.1365-2141.1961.tb00347.x.
8
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.
9
Hereditary persistence of fetal hemoglobin.胎儿血红蛋白遗传性持续存在
Am J Med Sci. 1961 Feb;241:215-7. doi: 10.1097/00000441-196102000-00009.
10
Hereditary persistence of foetal haemoglobin production, and its interaction with the sickle-cell trait.胎儿血红蛋白产生的遗传性持续存在及其与镰状细胞性状的相互作用。
Br J Haematol. 1958 Apr;4(2):138-49. doi: 10.1111/j.1365-2141.1958.tb03844.x.
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