A rare case of compound heterozygous Southeast Asian double α-globin gene deletion and Haemoglobin Quong Sze in a Malay proband.

IF 0.6 4区医学 Q4 PATHOLOGY Malaysian Journal of Pathology Pub Date : 2024-08-01

D Vijian, W S Wan Ab Rahman, T P Kannan, Z Zulkafli, N H Mohd Noor, R Bahar, M Z Hassan, S Iberahim, M Abdullah, S Mohamed Yusoff, M Ramli, N Yasin, E Esa

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Abstract

Introduction: Haemoglobin (Hb) Quong Sze is a non-deletional α-thalassaemia subtype that occurs due to missense mutation at codon 125 of the HBA2 gene. Interaction between Hb QS with Southeast Asian double α-globin gene deletion results in non-deletional HbH disease, which is more severe than deletional HbH.

Case report: A 3-month-old baby boy was presented with neonatal anaemia and mild hepatomegaly. Full blood count revealed severe hypochromic microcytic anaemia. There was an abundance of HbH inclusion bodies in his red blood cells. High-performance liquid chromatography showed a reduced HbA2 level with the presence of pre-run peak. Capillary electrophoresis showed the presence of HbH and Hb Barts. Molecular analysis found a common α⁰-thalassaemia (--^SEA) in one allele and mutation in codon 125 in the other allele.

Discussion: Non-deletional HbH disease due to a combination of deletional and non-deletional mutations may present with severe clinical manifestations than those with deletion mutations, which warrants accurate diagnosis using molecular techniques.

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一例罕见的东南亚双α-球蛋白基因缺失和血红蛋白Quong Sze复合杂合子马来原型。

简介血红蛋白（Hb）Quong Sze 是一种非缺失型α-地中海贫血亚型，是由于 HBA2 基因第 125 密码子的错义突变引起的。Hb QS与东南亚双α-球蛋白基因缺失之间的相互作用导致了非缺失型HbH病，该病比缺失型HbH更为严重：一名 3 个月大的男婴因新生儿贫血和轻度肝肿大就诊。全血细胞计数显示其患有严重的低色素性小细胞性贫血。他的红细胞中有大量的 HbH 包涵体。高效液相色谱法显示 HbA2 水平降低，并出现了运行前峰值。毛细管电泳显示存在 HbH 和 Hb Barts。分子分析发现，一个等位基因中存在常见的α0-地中海贫血（--SEA），另一个等位基因的密码子125发生了突变：讨论：由缺失突变和非缺失突变联合导致的非缺失性 HbH 病的临床表现可能比缺失突变者严重，因此需要使用分子技术进行准确诊断。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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来源期刊

Malaysian Journal of Pathology PATHOLOGY-

CiteScore

3.60

自引率

5.60%

发文量

期刊介绍： The Malaysian Journal of Pathology is the official journal of the College of Pathologists, Academy of Medicine Malaysia. The primary purpose of The Journal is to publish the results of study and research in Pathology, especially those that have particular relevance to human disease occurring in Malaysia and other countries in this region. The term PATHOLOGY will be interpreted in its broadest sense to include Chemical Pathology, Cytology, Experimental Pathology, Forensic Pathology, Haematology, Histopathology, Immunology, Medical Microbiology and Parasitology. The Journal aims to bring under one cover publications of regional interest embracing the various sub-specialities of Pathology. It is expected that the articles published would be of value not only to pathologists, but also to medical practitioners in search of a scientific basis for the problems encountered in their practice, and to those with an interest in diseases which occur in the tropics.