Family study of haemoglobin Arya in a Malaysian family.

IF 0.6 4区医学 Q4 PATHOLOGY

Malaysian Journal of Pathology Pub Date : 2024-08-01

S Nahanthiran, N H Nik Mustapha, N Yasin, F B Idris, S B Md Noor

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引用次数: 0

Abstract

Introduction: Thalassemia and haemoglobinopathies are relatively common among Malaysians. One of the rare haemoglobinopathies reported is Haemoglobin (Hb) Arya, which occurs due to substitution of aspartic acid at residue 47 of the alpha chain by asparagine. Here, we report the detection of Hb Arya in a Malaysian family, which was detected incidentally during family screening.

Case report: A 16 years-old girl, clinically asymptomatic was noted to have low mean corpuscular haemoglobin (MCV) with normal Hb level. Hb analysis using capillary electrophoresis (CE) showed reduced Hb A of 76.5%, Hb A2 of 1.6% with presence of small peak at Zone 1 likely A2'. There was also a small peak noted at Hb D zone and Hb S zones which quantified as 1.5% and 20% respectively. Supplementary test by high performance liquid chromatography (HPLC) showed a prominent peak at D-window (19.6%) and a small peak at S-window (0.6%). DNA analysis revealed a heterozygous state of α2 codon 47 Hb Arya mutation. Subsequent family study showed a similar mutation in the father and sister of the index case.

Conclusion: Very few reports are available up to date regarding Hb Arya. This report highlights the rare haemoglobinopathy in a Malay family in Malaysia that contributes to the growing literature of this rare haemoglobin variant.

本刊更多论文

马来西亚一个家庭的血红蛋白 Arya 家族研究。

导言：地中海贫血和血红蛋白病在马来西亚人中比较常见。其中一种罕见的血红蛋白病是血红蛋白（Hb）Arya，它是由于α链第 47 个残基的天冬氨酸被天冬酰胺取代而引起的。在此，我们报告了在一个马来西亚家庭中发现的 Hb Arya，该病例是在家庭筛查中偶然发现的：病例报告：一名 16 岁女孩，临床无症状，平均血红蛋白（MCV）偏低，但 Hb 水平正常。使用毛细管电泳（CE）进行的血红蛋白分析显示，血红蛋白 A 降低了 76.5%，血红蛋白 A2 降低了 1.6%，在 1 区可能出现 A2'小峰。在 Hb D 区和 Hb S 区也出现了一个小峰，分别为 1.5%和 20%。高效液相色谱法（HPLC）的补充检测显示，在 D 区有一个明显的峰值（19.6%），在 S 区有一个小峰值（0.6%）。DNA 分析显示，α2 密码子 47 Hb Arya 突变为杂合状态。随后的家族研究显示，该病例的父亲和姐姐也有类似的突变：结论：迄今为止，有关血红蛋白 Arya 的报告寥寥无几。本报告重点介绍了马来西亚一个马来人家庭中的罕见血红蛋白病，为越来越多关于这种罕见血红蛋白变异的文献做出了贡献。

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.