两个有趣的病例罕见的血红蛋白变异-血红蛋白J Meerut与不同的临床表现

Aneesha Kataria, Sabina Khan, S. Sehgal, S. Jetley
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引用次数: 0

摘要

理由:在印度的多民族人群中,已经描述了大量的变异血红蛋白,HbJ Meerut是一种相对罕见的α-球蛋白变体。它是由α珠蛋白基因密码子120突变使丙氨酸变为谷氨酸引起的。我们提出两例不同临床表现的HbJ Meerut病例。患者关注:第一个病例是一名16个月大的男孩,他以咳嗽和贫血来到儿科门诊。第二例患者是一名26岁的年轻男性,在内科门诊以肠胃炎为主诉。两例患者均行全血细胞计数(CBC)、外周涂片和高效液相色谱(HPLC)检查。诊断:病例1表现为严重的小细胞低色贫血伴血小板增多,病例2表现为正红细胞正色血象。在这两种情况下,在HPLC图谱上发现P3窗口(滞留时间为1.42)有一个峰,提示HbJ Meerut。干预措施:建议患者进行家庭研究。结果:两例患者均未随访。教训:虽然HbJ Meerut没有什么临床意义,但重要的是要意识到它,因为各种其他α -和β -珠蛋白链变体存在P3峰升高,并且通过其保留时间的差异来区分,而HPLC被认为是金标准。
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Two interesting cases of a rare haemoglobin variant – Haemoglobin J Meerut with varied clinical presentations
Rationale: In the multi-ethnic population of India, a plethora of variant haemoglobins have been described with HbJ Meerut being a relatively uncommon α-globin variant. It results from mutation at codon 120 of the α globin gene changing the alanine to glutamic acid. We present two cases of HbJ Meerut with varied clinical presentations. Patient Concerns: The first case was a 16 month old boy who presented to the Paediatric outpatient department with cough and anaemia. The second patient was a young male aged 26 years who presented with chief complaints of gastroenteritis in medicine OPD. Complete blood count (CBC), peripheral smear and High performance liquid chromatography (HPLC) were performed in both the cases. Diagnosis: While Case 1 showed severe microcytic hypochromic anaemia with thrombocytosis, second case revealed normocytic normochromic blood picture. In both the cases, on HPLC pattern a peak in P3 window (retention time of 1.42) was noted suggestive of HbJ Meerut. Intervention: The patients were advised family studies. Outcome: Both the patients were lost to follow up. Lesson: Although HbJ Meerut carries little clinical significance, it is important to be aware of it, as various other alpha- and beta-globin chain variants present with elevated P3 peaks and are distinguished by the differences in their retention time for which HPLC is considered the gold standard.
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