Hemoglobin SE Disease in Hatay, in the Southern Part of Turkey

Abstract

Double heterozygosity for hemoglobin (Hb) E and S, known as HbSE disease, is a rare, clinically benign condition involving mild hemolysis. Only 25 cases have been reported to date. The current literature generally associates HbSE with a benign clinical course, although vaso-occlusive complications have been reported. Although only single case reports were previously available, we have observed 20 cases of HbSE and wish to report them. We examined the records of patients presenting to our hemoglobinopathy center in 2001–2013. High performance liquid chromatography (HPLC) was used for hematological assessment of blood samples with ethylenediaminetetraacetic acid. Eight patients were male and 12 female. Mean hemoglobin electrophoresis values were Hb A1: 6.3%, Hb E 34.5%, HbS: 59.5% and Hb F: 1.9%. Three patients (15%) were symptomatic with vaso-occlusive crisis and one had cerebral stroke. These were siblings. The patient with cerebral stroke was using hydroxyurea. The incidence of HbSE disease is rising due to population admixtures and racial intermarriages. Increased numbers of cases of HbSE have been detected after premarital hemoglobinopathy screening in the Antakya and Çukurova regions of Turkey. The aim of this study was to report large numbers of patients with HbSE diagnosed through the routine HPLC method. The secondary aim was to emphasize that severe vaso-occlusive crisis such as infarction symptoms could be seen in HbSE. E，S型双杂合性血红蛋白，被称为HbSE症，是一种罕见的，临床上呈良性的病症，通常伴有轻度溶血症状。迄今为止只有25个关于此病症的报告。当前通常把HbSE症是作为一种良性病患，尽管已有报告显示出其梗塞并发症的存在。虽然只有极少的相关报告，我们仍研究了20个HbSE病例，并希望能陈述我们的发现。 我们检查了2001–2013年患者在我们血红蛋白病中心提交的检测记录。高效液相色谱法（HPLC）及乙二胺四乙酸被采用以评估收集到的血液样本。患者为8名男性，12名女性。他们的平均血红蛋白电泳值分别为Hb A1: 6.3%、Hb E:34.5%、Hb S:59.5%,Hb F:1.9%。其中3位（15%）患者患有梗塞的并发症，一位患有脑卒中。这三名患者是兄弟姐妹。患有脑卒中的患者当时使用过羟基脲。HbSE症发病率的上升是由于人口及人种间的混血。在土耳其Antakya 和Çukurova 地区的婚前血红蛋白病的筛查中，发现了HbSE症病例的增加。该研究的目的是报告大量通过高效液相色谱法诊断的HbSE症病例。次要目的是强调例如梗塞的严重并发症会由HbSE症引发。