纯合子型δ - β型地中海贫血合并α型地中海贫血和红细胞增多症1例报告。

IF 2.7 4区医学 Q2 MEDICAL LABORATORY TECHNOLOGY

British Journal of Biomedical Science Pub Date : 2024-11-21 eCollection Date: 2024-01-01 DOI:10.3389/bjbs.2024.13663

Hala Shokr, Mandeep Kaur Marwah, Hisam Siddiqi, Christine Wright, Sukhjinder Marwah

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引用次数: 0

摘要

在本报告中，我们描述了一例纯合子δ - β (δβ)地中海贫血，这是一种罕见的遗传性疾病，其特征是δ (δ)和β (β)-珠蛋白链产生严重缺乏，导致红细胞生成无效和慢性溶血性贫血。患者是一名患有δβ-地中海贫血症的26岁女性，经历了一次流产。高效液相色谱检测胎儿血红蛋白（HbF）含量为89.5%，糖化HbF含量为14.4%。Sebia毛细管电泳显示血红蛋白峰值为97.2%和2.8%。Kleihauer Bekte试验显示胎儿细胞为全细胞型，形态学分析显示为小细胞型、低色红细胞型和靶细胞型。基因分析证实了β-珠蛋白基因簇中两个大缺失的复合杂合性。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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Homozygous Delta-Beta Thalassaemia With Alpha Thalassaemia and Erythrocytosis- a Rare Case Report.

In this report, we describe a case of homozygous delta-beta (δβ) thalassaemia, a rare genetic disorder characterized by severe deficiency in delta (δ) and beta (β)-globin chain production, leading to ineffective erythropoiesis and chronic haemolytic anaemia. The patient, a 26-year-old female with δβ-thalassaemia, experienced a miscarriage. High-performance liquid chromatography revealed 89.5% foetal haemoglobin (HbF) and 14.4% glycated HbF. Sebia capillary electrophoresis showed haemoglobin peak of 97.2% and 2.8%. Kleihauer Bekte test indicated a pancellular pattern of foetal cells, while morphology analysis demonstrated microcytic, hypochromic red cells and target cells. Gene analysis confirmed compound heterozygosity for two large deletions in the β-globin gene cluster.

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来源期刊

British Journal of Biomedical Science 医学-医学实验技术

CiteScore

4.40

自引率

15.80%

发文量

审稿时长

>12 weeks

期刊介绍： The British Journal of Biomedical Science is committed to publishing high quality original research that represents a clear advance in the practice of biomedical science, and reviews that summarise recent advances in the field of biomedical science. The overall aim of the Journal is to provide a platform for the dissemination of new and innovative information on the diagnosis and management of disease that is valuable to the practicing laboratory scientist.