Haemoglobinopathies: A Retrospective Study from a Tertiary Care Centre, Southern India

Hemalata Lokanatha, Pradeep Rudramurthy
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Abstract

Introduction: Thalassaemia and other structural haemoglobinopathies are the major genetic disorders that cause significant morbidity in children. Haemoglobinopathies need to be diagnosed at the earliest in order to offer suitable treatment, carrier identification and counseling which will help to decrease the incidence of haemoglobinopathies. Aim: To study the clinicohaematological spectrum of children with thalassaemia and other haemoglobinopathies, followed by family screening and counseling. Materials and Methods: This retrospective cross-sectional study was taken up at Department of Pathology, Indira Gandhi Institute of Child Health, Bangalore, Karnataka, India from January 2018 to December 2020, during which records of 235 cases were studied, out of which 100 were the children visiting institute and 135 were the parents and siblings of these children. Diagnosis of these cases was followed by counseling for these families. Results were calculated by data analysis. Percentages were calculated from the frequency of the variables. Results: Amongst the records of 235 cases studied, β thalassaemia major was the most common haemoglobinopathy found in 75 patients, followed by sickle cell anaemia in 10 patients. β thalassaemia trait was the most common haemoglobinopathy among the parents of these children, which was found in 125 individuals. Conclusion: β thalassaemia major is the most common disorder amongst the children with haemoglobinopathy, followed by sickle cell anaemia. β thalassaemia trait is a common entity amongst the carriers of haemoglobinopathy.
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血红蛋白病:来自印度南部三级保健中心的回顾性研究
地中海贫血和其他结构性血红蛋白病是导致儿童显著发病率的主要遗传性疾病。血红蛋白病需要尽早诊断,以便提供适当的治疗、携带者识别和咨询,这将有助于减少血红蛋白病的发病率。目的:研究地中海贫血及其他血红蛋白病患儿的临床血液学谱,并进行家庭筛查和咨询。材料和方法:本回顾性横断面研究于2018年1月至2020年12月在印度卡纳塔克邦班加罗尔英迪拉甘地儿童健康研究所病理学系进行,期间研究了235例病例的记录,其中100例为访问机构的儿童,135例为这些儿童的父母和兄弟姐妹。对这些病例进行诊断后,对这些家庭进行咨询。通过数据分析计算结果。百分比是根据变量出现的频率计算出来的。结果:235例患者中,β地中海贫血(75例)是最常见的血红蛋白病,其次是镰状细胞贫血(10例)。在这些儿童的父母中,β地中海贫血特征是最常见的血红蛋白病,在125个人中发现。结论:β地中海贫血是血红蛋白病患儿中最常见的疾病,其次为镰状细胞性贫血。β地中海贫血特征是血红蛋白病携带者之间的共同实体。
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71
审稿时长
12 weeks
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