Delta - β地中海贫血,一种罕见的血红蛋白变异:来自北印度邦淋巴结中心的经验

Q4 Medicine
P. Jain, N. Marwah, N. Dalal, Richa Pawar, Meenu Gill, Susheel Kumar
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引用次数: 2

摘要

背景:出生几个月后,胎儿血红蛋白(HbF)降至<1%。然而,在罕见的情况下,如德尔塔-β地中海贫血和遗传性HbF持续存在,它可以从婴儿期持续到成年。δβ地中海贫血是一种相对罕见的地中海贫血,因为β和δ珠蛋白链的产生都减少了。目的:本研究旨在评估δβ地中海贫血的血液学和高效液相色谱(HPLC)结果。设置与设计:横断面观察研究。受试者和方法:该研究在Rohtak PGIMS临床病理学系进行。在大约1年的时间里,对1197名患者进行了筛查,共有13例δβ地中海贫血通过HPLC检测。使用的统计分析:未完成。结果:表现年龄1~42岁,平均22.8岁。11例诊断为杂合型δβ地中海贫血,2例诊断为纯合型Δβ地中海贫血。结论:δβ地中海贫血是HbF升高的罕见原因。应仔细分析临床和血液学参数,以便准确诊断。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Delta beta thalassemia, a rare hemoglobin variant: An experience from nodal centre in North Indian state
CONTEXT: Fetal hemoglobin (HbF) reduces to <1% few months after birth. However, it can persist beyond infancy into adult life in rare conditions such as delta-beta (δβ) thalassemia and hereditary persistence of HbF. δβ thalassemia is a relatively rare type of thalassemia due to decrease in both beta and delta globin chain production. AIMS: This study aims to assess the hematological and high-performance liquid chromatography (HPLC) findings in δβ thalassemia. SETTINGS AND DESIGN: Cross-sectional observational study. SUBJECTS AND METHODS: The study was conducted in department of Clinical Pathology, PGIMS, Rohtak. On screening of 1197 patients over a period of around 1 year, a total of 13 cases of δβ thalassemia were detected by HPLC. STATISTICAL ANALYSIS USED: Not done. RESULTS: The age of presentation ranged from 1 to 42 years with a mean age of 22.8 years. Eleven cases were diagnosed as heterozygous δβ thalassemia and two as homozygous δβ thalassemia. CONCLUSIONS: δβ thalassemia is an uncommon cause of elevated HbF. Clinical and hematological parameters should be carefully analyzed for accurate diagnosis.
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来源期刊
Journal of Applied Hematology
Journal of Applied Hematology Medicine-Hematology
CiteScore
0.40
自引率
0.00%
发文量
34
审稿时长
24 weeks
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