A first case of hemoglobin Castilla [Beta 32(B14) Leu>Arg; HBB: c.98T>G] associated with [IVS-I-1 (G>A); HBB:c.92+1G>A] mutation found in a Syrian betathalassemia patient

  • Ahmad Shoujaa | ahmad.shoujaa@damascusuniversity.edu.sy Faculty of Pharmacy, Damascus University, Damascus, Syrian Arab Republic.
  • Yasser Mukhalalaty Thalassemia Center, Ministry of Health, Damascus, Syrian Arab Republic.
  • Hossam Murad Molecular Biology and Biotechnology Department, Atomic Energy of Syrian Commission, Damascus, Syrian Arab Republic.
  • Faizeh Al-Quobaili Faculty of Pharmacy, Damascus University, Damascus, Syrian Arab Republic.

Abstract

Beta thalassemia (β-thal) is one of the most common worldwide inherited hemoglobinopathies. Proper identification and diagnosis of hemoglobin (Hb) variants provide a major challenge. In this report, we describe a 1-year-old boy, presented with the diagnosis of β-TM (beta thalassemia major), has received regular blood transfusions. The molecular analysis revealed the presence of rare Hb Castilla [Beta 32(B14) Leu>Arg; HBB: c.98T>G] variant associated with β0 [IVS-I-1 (G>A); AG^GTTGGT- >AGATTGGT beta0] (HBB:c.92+1G>A) Mutation in beta-globin (β-globin) gene. To our knowledge, this is the first report of Hb Castilla [Beta 32(B14) Leu>Arg] in ExonII of β-globin gene which were found in Syrian male proband. However, we should investigate abnormal hemoglobins in patients with beta thalassemia to determine whether they have involvement with β-thalassemia mutations in the clinical case of the patients or not.

 

β地中海贫血(β-thal)是世界上最常见的遗传性血红蛋白病之一。正确识别和诊断血红蛋白(Hb)变异提供了一个重大的挑战。在这份报告中,我们描述了一个1岁的男孩,出现了β-TM(β地中海贫血)的诊断,已经接受了定期输血。分子分析发现,β-球蛋白(β-globin)基因存在罕见的Hb Castilla[Beta 32(B14)Leu>Arg;HBB:c.98T>G]变异,与β0[IVS-I-1(G>A);AG^GTTGGT->AGATTGGT beta0](HBB:c.92+1G>A)突变有关。 据我们所知,这是首次在叙利亚男性亲子中发现的β-球蛋白基因外显子II的Hb Castilla [Beta 32(B14) Leu>Arg]的报告。但是,我们应该对β地中海贫血患者的异常血红蛋白进行调查,以确定其是否与患者临床病例中的β地中海贫血突变有关。

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Published
2020-01-03
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Issue
Section
Case Reports
Keywords:
Hb Castilla, β-Thalassemia (β-thal), mutations, Syria.
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How to Cite
Shoujaa, A., Mukhalalaty, Y., Murad, H., & Al-Quobaili, F. (2020). A first case of hemoglobin Castilla [Beta 32(B14) Leu>Arg; HBB: c.98T>G] associated with [IVS-I-1 (G>A); HBB:c.92+1G>A] mutation found in a Syrian betathalassemia patient. Thalassemia Reports, 10(1). https://doi.org/10.4081/thal.2020.8396