Shokr Hala, Marwah Mandeep Kaur, Siddiqi Hisam, Wright Christine, Marwah Sukhjinder
Pharmacy Division, School of Health Sciences, Faculty of Biology, Medicine and Health, The University of Manchester, Manchester, United Kingdom.
Aston Medical School, College of Health and Life Sciences, Aston University, Birmingham, United Kingdom.
Br J Biomed Sci. 2024 Nov 21;81:13663. doi: 10.3389/bjbs.2024.13663. eCollection 2024.
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.
在本报告中，我们描述了一例纯合子δβ地中海贫血病例，这是一种罕见的遗传性疾病，其特征是δ和β珠蛋白链生成严重不足，导致无效造血和慢性溶血性贫血。该患者为一名患有δβ地中海贫血的26岁女性，经历了一次流产。高效液相色谱显示胎儿血红蛋白（HbF）占89.5%，糖化HbF占14.4%。Sebia毛细管电泳显示血红蛋白峰分别为97.2%和2.8%。Kleihauer Bekte试验显示胎儿细胞呈全细胞型，而形态学分析显示有小细胞、低色素红细胞和靶形细胞。基因分析证实β珠蛋白基因簇中存在两个大片段缺失的复合杂合性。
