Nishith A Vachhani, Daya J Vekariya, Roshan B Colah, Heena N Kashiyani, Sanjeev L Nandani
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Complete blood counts (CBCs) and high performance liquid chromatography (HPLC) analysis were performed. We detected 1891 (11.26%) individuals with different hemoglobinopathies, of whom 758 (4.52%) were diagnosed to carry β-thal trait, 104 (0.62%) carried Hb D-Punjab (<i>HBB</i>: c.364G>C) trait, 61 (0.36%) carried sickle cell trait, 32 (0.19%) carried δβ-thal trait/HPFH (hereditary persistence of fetal Hb) trait, and other hemoglobinopathies were identified in smaller numbers (0.15%). We encountered 27 individuals with mean corpuscular Hb (MCH) <27.0 pg and mean corpuscular volume (MCV) <80.0 fL levels, who had borderline Hb A<sub>2</sub> levels (3.2-3.5%). Twenty castes showed the presence of β-thal or other hemoglobinopathies. A high prevalence of β-thal was found in the Sindhis (11.67%), Lohanas (9.71%), Brahmins (6.31%), Bharvads (6.94%), Harijans (7.57%) and Vankars (7.77%). All the heterozygotes were given appropriate counseling. A multi pronged approach, including screening of high school and college students, needs to be considered for this vast and ethnically diverse country to reduce the burden of hemoglobinopathies.</p>","PeriodicalId":12997,"journal":{"name":"Hemoglobin","volume":null,"pages":null},"PeriodicalIF":1.2000,"publicationDate":"2022-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"2","resultStr":"{\"title\":\"Spectrum of β-Thalassemia and Other Hemoglobinopathies in the Saurashtra Region of Gujarat, India: Analysis of a Large Population Screening Program.\",\"authors\":\"Nishith A Vachhani, Daya J Vekariya, Roshan B Colah, Heena N Kashiyani, Sanjeev L Nandani\",\"doi\":\"10.1080/03630269.2022.2142608\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<p><p>Hemoglobinopathies are common genetic disorders of the hemoglobin (Hb) molecule. Globally, 7.0% of the population are carriers of thalassemia with 300,000-400,000 affected births each year. There are >40 million carriers of β-thalassemia (β-thal) in India with 10,000-12,000 affected births every year. This makes control programs crucial in this vast and diverse country. The present study was undertaken to find out the burden of hemoglobinopathies, and in particular, the prevalence of β-thal carriers in the population of Saurashtra region of Gujarat in Western India. A total of 16,780 individuals, including school and college students, were screened. Complete blood counts (CBCs) and high performance liquid chromatography (HPLC) analysis were performed. 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引用次数: 2
摘要
血红蛋白病是血红蛋白(Hb)分子常见的遗传性疾病。在全球范围内,7.0%的人口是地中海贫血携带者,每年有30万至40万新生儿受影响。印度有超过4000万β-地中海贫血(β-thal)携带者,每年有10,000-12,000名受影响的新生儿。这使得控制项目在这个幅员辽阔、多样化的国家至关重要。本研究旨在了解印度西部古吉拉特邦绍拉什特拉地区人群中血红蛋白病的负担,特别是β-thal携带者的患病率。共有16,780人接受了筛查,其中包括在校学生和大学生。全血细胞计数(CBCs)和高效液相色谱(HPLC)分析。我们检测到1891例(11.26%)不同血红蛋白病个体,其中758例(4.52%)携带β-thal性状,104例(0.62%)携带Hb D-Punjab (HBB: C . 364g >C)性状,61例(0.36%)携带镰状细胞性状,32例(0.19%)携带δβ-thal性状/HPFH(胎儿Hb遗传持续性)性状,其他血红蛋白病较少(0.15%)。我们遇到了27例平均红细胞Hb (MCH) 2水平(3.2-3.5%)的患者。20个种姓出现β-thal或其他血红蛋白病。β-thal在信德族(11.67%)、洛哈纳族(9.71%)、婆罗门族(6.31%)、巴瓦德族(6.94%)、哈里贾族(7.57%)和万卡尔族(7.77%)中患病率较高。对所有杂合子给予适当的辅导。在这个幅员辽阔、种族多样的国家,需要考虑采取多管齐下的方法,包括对高中生和大学生进行筛查,以减轻血红蛋白病的负担。
Spectrum of β-Thalassemia and Other Hemoglobinopathies in the Saurashtra Region of Gujarat, India: Analysis of a Large Population Screening Program.
Hemoglobinopathies are common genetic disorders of the hemoglobin (Hb) molecule. Globally, 7.0% of the population are carriers of thalassemia with 300,000-400,000 affected births each year. There are >40 million carriers of β-thalassemia (β-thal) in India with 10,000-12,000 affected births every year. This makes control programs crucial in this vast and diverse country. The present study was undertaken to find out the burden of hemoglobinopathies, and in particular, the prevalence of β-thal carriers in the population of Saurashtra region of Gujarat in Western India. A total of 16,780 individuals, including school and college students, were screened. Complete blood counts (CBCs) and high performance liquid chromatography (HPLC) analysis were performed. We detected 1891 (11.26%) individuals with different hemoglobinopathies, of whom 758 (4.52%) were diagnosed to carry β-thal trait, 104 (0.62%) carried Hb D-Punjab (HBB: c.364G>C) trait, 61 (0.36%) carried sickle cell trait, 32 (0.19%) carried δβ-thal trait/HPFH (hereditary persistence of fetal Hb) trait, and other hemoglobinopathies were identified in smaller numbers (0.15%). We encountered 27 individuals with mean corpuscular Hb (MCH) <27.0 pg and mean corpuscular volume (MCV) <80.0 fL levels, who had borderline Hb A2 levels (3.2-3.5%). Twenty castes showed the presence of β-thal or other hemoglobinopathies. A high prevalence of β-thal was found in the Sindhis (11.67%), Lohanas (9.71%), Brahmins (6.31%), Bharvads (6.94%), Harijans (7.57%) and Vankars (7.77%). All the heterozygotes were given appropriate counseling. A multi pronged approach, including screening of high school and college students, needs to be considered for this vast and ethnically diverse country to reduce the burden of hemoglobinopathies.
期刊介绍:
Hemoglobin is a journal in the English language for the communication of research and information concerning hemoglobin in humans and other species. Hemoglobin publishes articles, reviews, points of view
The journal covers topics such as:
structure, function, genetics and evolution of hemoglobins
biochemical and biophysical properties of hemoglobin molecules
characterization of hemoglobin disorders (variants and thalassemias),
consequences and treatment of hemoglobin disorders
epidemiology and prevention of hemoglobin disorders (neo-natal and adult screening)
modulating factors
methodology used for diagnosis of hemoglobin disorders