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HBE纯合血红蛋白病——偶然发现。

HBE homozygous haemoglobinpathy - Fortuitous finding.

作者信息

Sri V L Premika, Sreeja C, Muthukumar R Sathish, Nachiammai N, Jayaraj Merlin, Priya A H Harini

机构信息

Department of Oral and Maxillofacial Pathology, Chettinad Dental College and Research Institute, Chennai, Tamil Nadu, India.

出版信息

J Oral Maxillofac Pathol. 2022 Oct-Dec;26(4):580-582. doi: 10.4103/jomfp.jomfp_98_22. Epub 2022 Dec 22.

Abstract

A 24-year-old male patient presented with the principal complaint of deposits on his teeth and gingival pigmentation. After examination, he was diagnosed with chronic generalized gingivitis. He was further referred for pre-procedural routine blood investigations. Bleeding time, clotting time, and his random blood sugar values were normal. CBC report revealed the presence of erythrocytosis with microcytic hypochromic red blood cells. Following this peripheral smear was taken which reveals the presence of polychromatophils, target cells and a few spherocytes. Haemoglobin electrophoresis by high-performance liquid chromatography (HPLC) was performed which disclosed 90.8% of HbE, suggestive of homozygous haemoglobinopathy. He had no other associated systemic findings, and there was no relevant family history. The patient was informed about his condition and stated to have pre-marital and pre-natal genetic counselling in the future. The patient being a carrier of the thalassaemic trait happened to know his condition incidentally, which could prevent future complications.

摘要

一名24岁男性患者,主要主诉为牙齿上有沉积物和牙龈色素沉着。检查后,他被诊断为慢性广泛性牙龈炎。他被进一步转诊进行术前常规血液检查。出血时间、凝血时间和随机血糖值均正常。血常规报告显示存在红细胞增多症,伴有小细胞低色素性红细胞。随后进行了外周血涂片检查,发现有多染性红细胞、靶形细胞和一些球形红细胞。通过高效液相色谱法(HPLC)进行血红蛋白电泳,结果显示90.8%为HbE,提示为纯合子血红蛋白病。他没有其他相关的全身症状,也没有相关家族史。患者被告知其病情,并被告知将来要进行婚前和产前遗传咨询。该患者碰巧偶然得知自己是地中海贫血性状的携带者,这可以预防未来的并发症。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/032b/10112082/e6eb75f143da/JOMFP-26-580-g001.jpg

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