Karmakar A, Ghosh S, Ghosh T K
Department of Pathology, Burdwan Medical College, West Bengal, India.
Mymensingh Med J. 2012 Apr;21(2):363-5.
Hb Acharnes or [β53(D4) Ala - Thr] is a newly discovered unstable hemoglobin variant. It has been reported in very few literatures across the world and no cases have been reported from India till date. Hb Acharnes is known to interact with β°-thalassemia to produce thalassemia intermedia and heterozygotes may present with borderline HbA2 levels. Here we report a rare case discovered during routine screening of thalassemia and hemoglobinopathies in a 19 year old pregnant lady. To emphasize the diagnostic difficulties and importance of detection of a rare hemoglobin variant Hb Acharnes [β53(D4) Ala - Thr] in an asymptomatic patient in West Bengal, India. The 19 year old asymptomatic pregnant lady P1+0, LMP - 21.01.2011 reported in antenatal OPD of Burdwan Medical College & Hospital, Burdwan, West Bengal, India for routine follow up. After proper antenatal check up her blood was collected as a routine screening for Thalassemia, EDTA blood was taken on 5th April 2011 and was subjected to Hemoglobin estimation by Cyanmethemoglobin method, Cell parameters in automated cell counter (SYSMEX KX21) and Hemoglobin analysis by HPLC in BIORAD VARIANT system. The patient was normal with respect to clinical examination and urinalysis. Routine blood counts revealed mild microcytic hypochromic anemia and on HPLC an unknown band (retention time 2.2 minutes, 21.2%, appearing as a shoulder of HbA0 band) of hemoglobin variant was discovered with normal level of HbF and HbA2. Hemoglobin analysis of her mother showed similar pattern while her father and her husband had normal Hb-HPLC pattern. The unknown hemoglobin variant was identified as Hemoglobin Acharnes or [β53 (D4) Ala - Thr] by the Biorad laboratories upon consulting the standard chromatogram patterns for this particular hemoglobin variant. Only Haemoglobin Electrophoresis by conventional gel technique may miss the case and the HPLC pattern may be used as a standard control for identification.
血红蛋白阿查内斯（Hb Acharnes）或[β53（D4）丙氨酸 - 苏氨酸]是一种新发现的不稳定血红蛋白变体。全球仅有极少文献报道过它，截至目前印度尚无病例报告。已知Hb阿查内斯与β°地中海贫血相互作用可导致中间型地中海贫血，杂合子可能表现为临界HbA2水平。在此，我们报告一例在对一名19岁孕妇进行地中海贫血和血红蛋白病常规筛查时发现的罕见病例。旨在强调在印度西孟加拉邦一名无症状患者中检测罕见血红蛋白变体Hb阿查内斯[β53（D4）丙氨酸 - 苏氨酸]的诊断困难及重要性。这位19岁无症状孕妇，孕1产0，末次月经日期为2011年1月21日，因常规随访就诊于印度西孟加拉邦布尔杜万医学院及医院的产前门诊。经过适当的产前检查后，采集她的血液作为地中海贫血的常规筛查样本，于2011年4月5日采集乙二胺四乙酸（EDTA）抗凝血，采用氰化高铁血红蛋白法进行血红蛋白测定，在全自动血细胞分析仪（希森美康KX21）上检测细胞参数，并在伯乐VARIANT系统中通过高效液相色谱法（HPLC）进行血红蛋白分析。该患者临床检查和尿液分析均正常。血常规显示轻度小细胞低色素性贫血，HPLC检测发现一条未知血红蛋白变体条带（保留时间2.2分钟，占比21.2%，表现为HbA0条带的肩峰），HbF和HbA2水平正常。对其母亲的血红蛋白分析显示出类似模式，而她的父亲和丈夫的Hb - HPLC模式正常。经咨询该特定血红蛋白变体的标准色谱图模式，伯乐实验室将该未知血红蛋白变体鉴定为血红蛋白阿查内斯或[β53（D4）丙氨酸 - 苏氨酸]。仅通过传统凝胶技术进行血红蛋白电泳可能会漏诊该病例，而HPLC模式可作为鉴定的标准对照。
