Venkataswamy Chaitra, Devi Am Shanthala
Assistant Professor, Department of Pathology, Psg Institute of Medical Sciences and Research, Coimbatore, Tamil Nadu, India.
Professor, Department of Transfusion Medicine, St John's Medical College Hospital, Bangalore, Karnataka, India.
J Clin Diagn Res. 2017 Jun;11(6):EC17-EC21. doi: 10.7860/JCDR/2017/25366.10023. Epub 2017 Jun 1.
Hereditary haemolytic anaemia is a common inherited disorder causing varying degree of morbidity and mortality. This includes disorders due to haemoglobin defect, membrane defect, and enzyme defect. Among them haemoglobinopathies, a single gene disorder, constitutes the major part of the disorder and is distributed worldwide with an incidence of 5%. These inherited disorders pose a major public health problem and increase the burden both on the patient and the society. Presently, these disorders are not curable but can only be prevented. Improved awareness about these diseases among medical fraternity leading to diagnosis of carrier state, genetic counselling, and antenatal diagnosis may help in decreasing the prevalence of the disease.
To determine the prevalence of hereditary haemolytic anaemia and to correlate clinical and haematological features.
The study was carried for duration five and half years (four years of retrospective and one and a half years prospective). All the patients diagnosed as hereditary haemolytic anaemia based on peripheral smear and special haematological investigation were included in the study. The clinical parameters and haematological parameters of all these patients were studied.
A total of 322 cases of hereditary haemolytic anaemia were diagnosed over a period of five and a half years. Of them thalassaemia syndrome constituted 165 cases (51.24%), sickle cell disorders 78 cases (24%), hereditary spherocytosis 43 cases (13.3%), G6PD deficiency 20 cases (6.29%) and HbE disorder 12 cases (3.7%). One case of hereditary elliptocytosis and one case of HbD Punjab was detected. Among thalassaemia syndromes beta thalassaemia was commonest clinically presenting disorder with a high morbidity. Sickle cell anaemia showed a higher level of HbF and a relatively milder clinical course. Hereditary spherocytosis had varied age at presentation. In G6PD deficiency drug induced haemolysis was the commonest clinical presentation. HbE disorders were from the north eastern states.
Haemoglobinopathies constitute the major group of hereditary haemolytic anaemia (74%). Genetic counselling is an important step in reducing the incidence of thalassaemia major.
遗传性溶血性贫血是一种常见的遗传性疾病，可导致不同程度的发病率和死亡率。这包括由于血红蛋白缺陷、膜缺陷和酶缺陷引起的疾病。其中，血红蛋白病作为一种单基因疾病，是该类疾病的主要组成部分，在全球范围内的发病率为5%。这些遗传性疾病构成了一个重大的公共卫生问题，增加了患者和社会的负担。目前，这些疾病无法治愈，只能预防。提高医学界对这些疾病的认识，从而实现携带者状态的诊断、遗传咨询和产前诊断，可能有助于降低该疾病的患病率。
确定遗传性溶血性贫血的患病率，并关联临床和血液学特征。
该研究持续了五年半（四年回顾性研究和一年半前瞻性研究）。所有根据外周血涂片和特殊血液学检查被诊断为遗传性溶血性贫血的患者均纳入研究。对所有这些患者的临床参数和血液学参数进行了研究。
在五年半的时间里，共诊断出322例遗传性溶血性贫血病例。其中，地中海贫血综合征165例（51.24%），镰状细胞病78例（24%），遗传性球形红细胞增多症43例（13.3%），葡萄糖-6-磷酸脱氢酶（G6PD）缺乏症20例（6.29%），血红蛋白E（HbE）病12例（3.7%）。检测到1例遗传性椭圆形红细胞增多症和1例血红蛋白D旁遮普型。在地中海贫血综合征中，β地中海贫血是临床上最常见且发病率高的疾病。镰状细胞贫血显示胎儿血红蛋白（HbF）水平较高，临床病程相对较轻。遗传性球形红细胞增多症的发病年龄各不相同。在G6PD缺乏症中，药物诱导的溶血是最常见的临床表现。HbE病患者来自东北部各邦。
血红蛋白病是遗传性溶血性贫血中的主要类型（74%）。遗传咨询是降低重型地中海贫血发病率的重要一步。
