Shi Huiping, Wang Zhaoyue
MOH Key Lab of Thrombosis and Hemostasis, Jiangsu Institute of Hematology, the First Affiliated Hospital of Soochow University Collaborative Innovation Center of Hematology, Soochow University, Suzhou, China.
Medicine (Baltimore). 2017 Nov;96(47):e8862. doi: 10.1097/MD.0000000000008862.
Hemoglobin Hornchurch is regarded as an asymptomatic hemoglobinopathy with no obvious hematological or clinical abnormalities. Recently, we identified hemoglobin Hornchurch in a 13-year-old Chinese boy complicated with thrombocytopenia, which displayed instability in isopropanol precipitation test.
In this case report, we reported a Chinese boy with hemoglobin Hornchurch complicated by thrombocytopenia. The patients have been misdiagnosed as aplastic anemia and myelodysplastic syndrome before.
Hemolysis tests, high-performance liquid chromatography, and HBB gene sequencing identified the E44K (G>A) mutation. Isopropanol precipitation test showed instability in hemoglobin Hornchurch.
The patient was given immunosuppressive therapy for 3 months.
His general conditions have improved along with the recovery of the hemogram index.
Further research is needed to clarify the relation between structural abnormality and functional properties of hemoglobin Hornchurch. This second case of hemoglobin Hornchurch indicates that there might be more hemoglobin variants or their carriers in the Chinese population.
血红蛋白霍恩彻奇被视为一种无症状的血红蛋白病，无明显血液学或临床异常。最近，我们在一名13岁中国男孩中发现了血红蛋白霍恩彻奇，其合并血小板减少症，在异丙醇沉淀试验中表现出不稳定性。
在本病例报告中，我们报告了一名患有血红蛋白霍恩彻奇并合并血小板减少症的中国男孩。该患者此前曾被误诊为再生障碍性贫血和骨髓增生异常综合征。
溶血试验、高效液相色谱法和HBB基因测序确定了E44K（G>A）突变。异丙醇沉淀试验显示血红蛋白霍恩彻奇不稳定。
该患者接受了3个月的免疫抑制治疗。
随着血常规指标的恢复，他的一般状况有所改善。
需要进一步研究以阐明血红蛋白霍恩彻奇的结构异常与功能特性之间的关系。这例第二例血红蛋白霍恩彻奇病例表明，中国人群中可能存在更多的血红蛋白变体或其携带者。
