Zebari Shakir Abdulrahman
Hematopathology, College of Medicine, University of Zakho, Zakho, IRQ.
Cureus. 2025 Feb 11;17(2):e78862. doi: 10.7759/cureus.78862. eCollection 2025 Feb.
Hemoglobinopathies are the most common inherited disorders in the Mediterranean region, including Iraq, with different frequencies and molecular features. They represent an important health problem in Iraq. Several studies have addressed the prevalence of hemoglobinopathy in Iraq, but no specific research has addressed its prevalence in Zakho city, Kurdistan Region, Iraq. Thus, this study was conducted to address this issue.
A prospective cross-sectional study was conducted in a premarital screening center at Zakho Emergency Teaching Hospital, involving 11,910 Kurdish persons attending premarital screening investigations. Blood samples were collected from all participants for complete blood counts and sickling tests. A cut-off value of hemoglobin (Hb) concentrations (<13.0 gm/dl in males, <12.0 gm/dl in females), mean cell volume (MCV) <80 fl and/or mean cell hemoglobin (MCH) <27 pg, and the results of the sickling test were used to categorize the participants into three groups: group I, normal (normal Hb, MCV, and MCH, and negative sickling test); group II, individuals with MCV < 80 fl and/or MCH < 27 pg, with or without anemia, and negative sickling test; group III, sickle positive (individuals with a positive sickling test, with or without anemia, regardless of MCV and/or MCH values). Groups II and III underwent further evaluations by morphology, reticulocyte count, hemoglobin-H preparation, iron studies, and cation exchange high-performance liquid chromatography (HPLC). β-thalassemia trait was diagnosed by hypochromic microcytic red cell indices and increased hemoglobin A2 (HbA2) (>3.5%). The sickle cell trait was diagnosed by the presence of a band at the S region at HPLC with a positive sickling test. Iron deficiency anemia (IDA) was diagnosed by hypochromic microcytic anemia and reduced transferrin saturation (<15%) and/or ferritin (<15 mg/L). Descriptive statistical analyses were conducted to define significant differences between the study's findings.
A total of 963 (8.09%) of the studied participants were in group II. Further investigations on these 963 cases confirmed a diagnosis of IDA in 610 (5.12%). β-thalassemia trait was detected in 308 cases, with an overall prevalence of 2.59%. δβ-thalassemia trait was detected in nine (0.076%) of the studied participants. A professional diagnosis of α-thalassemia was given to 36 (0.30%) of those with hypochromic microcytic red cell indices, normal iron studies, and HPLC results. A positive sickling test was seen in 48 participants and confirmed by HPLC as a sickle cell trait with a prevalence of 0.4%. The consanguinity rate among couples was 28.8%. Neither case of HbC or HbD trait, nor combined hemoglobinopathy, was detected in the current study. Furthermore, no differences were found between the prevalence of both β thalassemia and sickle cell trait with either sex and/or religion, with a p-value of 0.07, 0.07, 0.532, and 0.78, respectively.
The prevalence of hemoglobinopathy in Zakho city is lower than in other regions of Iraq but still constitutes a significant burden on health services and financial resources. Careful interpretations of red cell indices, together with intensified premarital screening and counseling programs, coupled with an urgent need to increase awareness about the effects of consanguinity marriages on the prevalence of autosomal recessive disorders, can further reduce the incidence of hemoglobinopathies.
血红蛋白病是地中海地区最常见的遗传性疾病,包括伊拉克,其发病率和分子特征各不相同。它们在伊拉克是一个重要的健康问题。几项研究探讨了伊拉克血红蛋白病的患病率,但没有具体研究涉及伊拉克库尔德地区扎胡市的患病率。因此,开展本研究以解决这一问题。
在扎胡急救教学医院的婚前筛查中心进行了一项前瞻性横断面研究,涉及11910名参加婚前筛查调查的库尔德人。采集所有参与者的血样进行全血细胞计数和镰变试验。根据血红蛋白(Hb)浓度(男性<13.0克/分升,女性<12.0克/分升)、平均红细胞体积(MCV)<80飞升和/或平均红细胞血红蛋白(MCH)<27皮克的临界值以及镰变试验结果,将参与者分为三组:第一组,正常(Hb、MCV和MCH正常,镰变试验阴性);第二组,MCV<80飞升和/或MCH<27皮克的个体,有无贫血,镰变试验阴性;第三组,镰变阳性(镰变试验阳性的个体,有无贫血,无论MCV和/或MCH值如何)。对第二组和第三组进行形态学、网织红细胞计数、血红蛋白-H制备、铁代谢研究和阳离子交换高效液相色谱(HPLC)进一步评估。β地中海贫血特征通过低色素小红细胞指数和血红蛋白A2(HbA2)升高(>3.5%)诊断。镰状细胞特征通过HPLC在S区域出现条带且镰变试验阳性诊断。缺铁性贫血(IDA)通过低色素小红细胞性贫血和转铁蛋白饱和度降低(<15%)和/或铁蛋白降低(<15毫克/升)诊断。进行描述性统计分析以确定研究结果之间的显著差异。
共有963名(8.09%)研究参与者属于第二组。对这963例病例的进一步调查确诊610例(5.12%)为IDA。检测到308例β地中海贫血特征,总体患病率为2.59%。在9名(0.076%)研究参与者中检测到δβ地中海贫血特征。对36名(0.30%)低色素小红细胞指数、铁代谢研究正常且HPLC结果正常的个体进行了α地中海贫血的专业诊断。48名参与者镰变试验阳性,经HPLC确认为镰状细胞特征,患病率为0.4%。夫妻间近亲结婚率为28.8%。本研究未检测到HbC或HbD特征病例,也未检测到合并血红蛋白病。此外,β地中海贫血和镰状细胞特征的患病率在性别和/或宗教方面均无差异,p值分别为0.07、0.07、0.532和0.78。
扎胡市血红蛋白病的患病率低于伊拉克其他地区,但仍对卫生服务和财政资源构成重大负担。仔细解读红细胞指数,加强婚前筛查和咨询项目,以及迫切需要提高对近亲结婚对常染色体隐性疾病患病率影响的认识,可进一步降低血红蛋白病的发病率。