Hereditary persistence of fetal hemoglobin.

胎儿血红蛋白的遗传性持久性。

• 发表时间: Jul-Dec 2020
• 来源期刊: Asian J Transfus Sci
• DOI: 10.4103/ajts.AJTS_71_16
• PMID: 33767547
• 文章类型: Case Reports
• 作者列表: Sharma DC,Singhal S,Woike P,Rai S,Yadav M,Gaur R

关键词: Hereditary persistence of fetal hemoglobin; heterozygotes; homozygotes

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（HPFH）的遗传性持久性是一种良性疾病，其中大量胎儿血红蛋白的产生一直持续到成年期，忽略正常的关闭点，在该关闭点之后，应该只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％或高达100％，通常在纯合子中比杂合子中高。本病例是纯合HPFH的典型实例。