PDF(Pubmed)
Abstract：
Congenital dyserythropoietic anemias (CDAs) are rare hereditary disorders, of which type II CDA is the most common. Mutations in the SEC23B gene located on chromosome 20 result in this autosomal recessive disorder. In this case report, we present a case of CDA II with unique biopsy findings being detected via genetic testing. A female aged 30 years presented with major complaints of pallor weakness and easy fatiguability since childhood. The patient gave a history of 25 units of blood transfusion, the majority of which were transfused during pregnancy, followed by regular transfusions thereafter. On examination, all her vitals were in the normal range. Pallor, frontal bossing, and malocclusion of teeth were noted. Her laboratory workup showed the following: hemoglobin (Hb): 3.7 g/dl; mean corpuscular volume: 83 fl; mean corpuscular Hb: 29 g/dl; mean corpuscular Hb concentration: 34.9 g/dl; red cell distribution width: 30.4%; reticulocyte count (RC): 6.2%; corrected RC: 1.3%; lactate dehydrogenase: 441 IU/L; direct Coombs test/indirect Coombs test: negative; serum iron: 242 microgram/dl; transferrin saturation: 96.08%; ferritin: 1,880 ng/ml; and normal high-performance liquid chromatography and eosin-5\'-maleimide binding test. The peripheral blood film showed normocytic normochromic anemia with anisopoikilocytosis in the form of a few spherocytes. No immature cells were seen. After obtaining the patient\'s consent, we performed a hereditary hemolytic anemia gene analysis test, which showed homozygous missense variation in exon 12 of the SEC23B gene. The bone marrow examination showed hyperplasia in the erythroid series with dyserythropoiesis, and surprisingly, myelofibrosis grade I-II (WHO 2017) was also observed on biopsy. Patients with CDA type II generally present with variable degrees of anemia along with pallor, icterus, splenomegaly, gallstones, and iron overload. In our case, the diagnosis of CDA type II was made at an adult age. Also, evidence of myelofibrosis was noted in our case, making it worth reporting. The use of a hereditary hemolytic anemia gene analysis panel test came as a rescue for its exact diagnosis. This case report emphasizes the role of molecular genetic testing for early and accurate diagnosis, which, in turn, could help in appropriate treatment planning and proper genetic counseling. The prevalence of CDA type II is still vaguely known; hence, extensive workup of persistent anemias and proper follow-up would be beneficial.
摘要：
先天性红细胞生成异常性贫血（CDAs）是罕见的遗传性疾病，其中II型CDA最常见。位于20号染色体上的SEC23B基因突变导致这种常染色体隐性遗传疾病。在这个案例报告中,我们介绍了一例CDAII病例,通过基因检测发现了独特的活检结果.一名30岁的女性，从小就表现出苍白无力和容易疲劳的主要抱怨。病人有25个单位的输血史,其中大部分是在怀孕期间输血，此后定期输血。在检查中，她所有的生命体征都在正常范围内.Pallor,额前带，并注意到牙齿错合。她的实验室检查显示如下：血红蛋白（Hb）：3.7g/dl；平均红细胞体积：83fl；平均红细胞Hb：29g/dl；平均红细胞Hb浓度：34.9g/dl；红细胞分布宽度：30.4％；网织红细胞计数（RC）：6.2％；校正RC：1.3％；乳酸：5IU/5malleribt-8ng/L；Coombin直接测试结果：5外周血膜显示正常细胞正常色素性贫血，并以少数球形细胞的形式出现异红细胞增多症。未见未成熟细胞。在征得患者同意后,我们进行了遗传性溶血性贫血基因分析,SEC23B基因第12外显子显示纯合错义变异。骨髓检查显示红细胞系增生伴红细胞生成异常，令人惊讶的是，在活检中也观察到骨髓纤维化I-II级（WHO2017）。II型CDA患者通常表现为不同程度的贫血和苍白，icterus,脾肿大,胆结石,铁过载。在我们的案例中,CDAII型的诊断是在成年时做出的.此外，在我们的案例中发现了骨髓纤维化的证据，让它值得报道。使用遗传性溶血性贫血基因分析小组测试可以挽救其确切诊断。本病例报告强调了分子基因检测对早期准确诊断的作用,which,反过来,可以帮助制定适当的治疗计划和适当的遗传咨询。CDAII型的患病率仍然模糊不清；因此，持续贫血的广泛检查和适当的随访将是有益的。
