PDF(Pubmed)
Abstract：
Hemoglobin (Hb) Chile [β28(B10) Leu > Met; HBB: c.85 C > A] is a rare hemoglobin variant caused by a missense mutation in the HBB gene. Only one case of Hb Chile has been reported worldwide so far. It is an unstable hemoglobin, characterized by cyanosis associated with chronic methemoglobinemia and hemolytic anemia induced by sulfonamides or methylene blue.
A 9-year-3-month-old girl had mild anemia of unknown etiology for more than 6 years. She had a slight pallor without other symptoms or signs. The complete blood count revealed normocytic normochromic anemia with a sometimes-elevated reticulocyte count, and the bone marrow cytology showed marked erythroid hyperplasia, but the tests related to hemolysis were normal. Therefore, the whole exome sequencing was performed and showed a heterozygous mutation for HBB: c.85 C > A. With asymptomatic methemoglobinemia confirmed later, she was eventually diagnosed with Hb Chile.
This is the first report of Hb Chile in China and the second worldwide. This case shows that Hb Chile is clinically heterogeneous and difficult to diagnose and expands our understanding on the clinical and hematological traits of the disease.
A 9-year-3-month-old girl had mild anemia of unknown etiology for more than 6 years. She had a slight pallor without other symptoms or signs. The complete blood count revealed normocytic normochromic anemia with a sometimes-elevated reticulocyte count, and the bone marrow cytology showed marked erythroid hyperplasia, but the tests related to hemolysis were normal. Therefore, the whole exome sequencing was performed and showed a heterozygous mutation for HBB: c.85 C > A. With asymptomatic methemoglobinemia confirmed later, she was eventually diagnosed with Hb Chile.
This is the first report of Hb Chile in China and the second worldwide. This case shows that Hb Chile is clinically heterogeneous and difficult to diagnose and expands our understanding on the clinical and hematological traits of the disease.
摘要：
背景：血红蛋白（Hb）智利[β28（B10）Leu>Met;HBB：c.85C>A]是由HBB基因中的错义突变引起的罕见血红蛋白变体。到目前为止，全世界仅报告了一例Hb智利病例。它是一种不稳定的血红蛋白，以与磺胺类或亚甲蓝引起的慢性高铁血红蛋白血症和溶血性贫血相关的紫癜为特征。
方法：一名9岁3个月大的女孩患有病因不明的轻度贫血超过6年。她有轻微的苍白，没有其他症状或体征。全血细胞计数显示正常细胞正常色素性贫血，有时网织红细胞计数升高，骨髓细胞检查显示明显的红系增生,但是与溶血相关的测试是正常的。因此,进行了整个外显子组测序，显示HBB的杂合突变：c.85C>A。后来证实无症状高铁血红蛋白血症，她最终被诊断出患有Hb智利。
结论：这是智利Hb在中国的第一份报告，也是全球的第二份报告。该病例表明HbChile在临床上是异质性的，难以诊断，并扩大了我们对该疾病的临床和血液学特征的理解。
方法：一名9岁3个月大的女孩患有病因不明的轻度贫血超过6年。她有轻微的苍白，没有其他症状或体征。全血细胞计数显示正常细胞正常色素性贫血，有时网织红细胞计数升高，骨髓细胞检查显示明显的红系增生,但是与溶血相关的测试是正常的。因此,进行了整个外显子组测序，显示HBB的杂合突变：c.85C>A。后来证实无症状高铁血红蛋白血症，她最终被诊断出患有Hb智利。
结论：这是智利Hb在中国的第一份报告，也是全球的第二份报告。该病例表明HbChile在临床上是异质性的，难以诊断，并扩大了我们对该疾病的临床和血液学特征的理解。
