Aneesha Kataria, Sabina Khan, S. Sehgal, S. Jetley
{"title":"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","authors":"Aneesha Kataria, Sabina Khan, S. Sehgal, S. Jetley","doi":"10.4103/hmj.hmj_9_23","DOIUrl":null,"url":null,"abstract":"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.","PeriodicalId":34280,"journal":{"name":"Hamdan Medical Journal","volume":"16 1","pages":"124 - 126"},"PeriodicalIF":0.0000,"publicationDate":"2023-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"Two interesting cases of a rare haemoglobin variant – Haemoglobin J Meerut with varied clinical presentations\",\"authors\":\"Aneesha Kataria, Sabina Khan, S. Sehgal, S. Jetley\",\"doi\":\"10.4103/hmj.hmj_9_23\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"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.\",\"PeriodicalId\":34280,\"journal\":{\"name\":\"Hamdan Medical Journal\",\"volume\":\"16 1\",\"pages\":\"124 - 126\"},\"PeriodicalIF\":0.0000,\"publicationDate\":\"2023-04-01\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Hamdan Medical Journal\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"https://doi.org/10.4103/hmj.hmj_9_23\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"\",\"JCRName\":\"\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Hamdan Medical Journal","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.4103/hmj.hmj_9_23","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"","JCRName":"","Score":null,"Total":0}
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.