The Importance of Molecular Biological Analysis for the Laboratory Diagnostic of Homozygous Haemoglobin Malay.

IF 0.5 4区 医学 Q4 GENETICS & HEREDITY
Balkan Journal of Medical Genetics Pub Date : 2024-09-06 eCollection Date: 2024-06-01 DOI:10.2478/bjmg-2024-0001
R Bahar, Z Zulkafli, R H Zulkeflee, M N Hassan, S Wan Ab Rahman Wan, Nh M Noor, M Ramli, A Hussin, A D Abdullah, S Iberahim, M Abdullah, S M Yusoff
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引用次数: 0

Abstract

Haemoglobin (Hb) Malay is variant haemoglobin with a β++ thalassemia phenotype. The prevalence of Hb Malay in the Malaysian population was 5.5%. We describe a 58-year-old male who presented with symptomatic anaemia to the Hospital Universiti Sains Malaysia. Further history revealed that the patient had anaemia since the age of 28, and on regular follow-up at other hospital. Physical examination revealed pallor, jaundice and hepatosplenomegaly. The full blood count and peripheral blood smear showed hypochromic microcytic anaemia with anisopoikilocytosis, and many target cells. High-performance liquid chromatography results showed a β thalassemia trait. However, the diagnosis does not alight with the patient's condition. Bone marrow aspirate was completed and showed reactive changes and erythroid hyperplasia. A molecular test was then performed for β globin gene mutation detection using Multiplex Amplification Refractory Mutation System (M-ARMS) PCR method. This revealed the result as homozygous codon 19 mutation or Hb Malay. Therefore, in this case report we would like to highlight the laboratory approaches, the challenges faced by the usual haematological investigations and the importance role of molecular testing in the diagnosis of severe anaemia.

分子生物学分析对同型血红蛋白马来实验室诊断的重要性。
马来血红蛋白(Hb)是一种具有β++地中海贫血表型的变异血红蛋白。马来血红蛋白在马来西亚人口中的发病率为 5.5%。我们描述了一名 58 岁的男性因症状性贫血到马来西亚理科大学医院就诊。进一步的病史显示,患者自 28 岁起就患有贫血症,并在其他医院接受定期随访。体格检查显示患者面色苍白、黄疸和肝脾肿大。全血细胞计数和外周血涂片显示低色素性小红细胞性贫血,伴有异型白细胞增多症和许多靶细胞。高效液相色谱结果显示其具有β地中海贫血特征。然而,诊断结果与患者的病情并不相符。骨髓穿刺术完成后,显示出反应性变化和红细胞增生。随后使用多重扩增难治性突变系统(M-ARMS)PCR方法进行了β球蛋白基因突变的分子检测。结果显示为同源密码子 19 突变或 Hb Malay。因此,在本病例报告中,我们希望强调实验室方法、常规血液学检查所面临的挑战以及分子检测在重度贫血诊断中的重要作用。
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来源期刊
CiteScore
1.00
自引率
0.00%
发文量
0
审稿时长
>12 weeks
期刊介绍: Balkan Journal of Medical Genetics is a journal in the English language for publication of articles involving all branches of medical genetics: human cytogenetics, molecular genetics, clinical genetics, immunogenetics, oncogenetics, pharmacogenetics, population genetics, genetic screening and diagnosis of monogenic and polygenic diseases, prenatal and preimplantation genetic diagnosis, genetic counselling, advances in treatment and prevention.
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