ArticleJournal of clinical and diagnostic research : JCDR2017
Clinico-Haematological Profile of Hereditary Haemolytic Anaemias in a Tertiary Health Care Hospital in South India.
Article in Journal of clinical and diagnostic research : JCDR, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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Abstract
introductionHereditary 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.
aimTo determine the prevalence of hereditary haemolytic anaemia and to correlate clinical and haematological features. MATERIALS AND
methodsThe 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.
resultsA 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.
conclusionHaemoglobinopathies constitute the major group of hereditary haemolytic anaemia (74%). Genetic counselling is an important step in reducing the incidence of thalassaemia major.
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