Krushna Pani 1 , Seema Sharma 2 , Manjula Murari 2 , Mahima Yadav 3 , Shubha Phadke 4 , Sarita Agarwal 4 Show Affiliations »
Abstract
INTRODUCTION: Hemoglobin E beta-thalassemia is one of the leading forms of severe thalassemia world wide. This disorder is more commonly found in South East Asia including north eastern states of India. Patients suffering from this disorder show marked clinical heterogeneity. MATERIALS AND METHODS: Referred cases of hemoglobin disorders from north India were evaluated prospectively. Details of clinical history and haematological findings including HPLC as well as mutation analysis were obtained. RESULTS: Twenty cases of E beta-thalassemia with widely variable clinical profile were included. The hematological parameters were also extremely variable with a wide range of hemoglobin (1.8-9.9 g/dl). Applying a severity scoring system all patients were classified the patients into mild (n=6), moderate (n=7) and severe (n=7) subclasses. We also correlated red cell Indies with HB E and HB F as well as age of onset of symptoms with HB E and HB F. IVS1-5(G-C) was found to be the most common thalassemia mutation associated with Hemoglobin E beta-thalassemia. CONCLUSION: Extremely variable clinical and haematological findings were observed in Hemoglobin E beta-thalassemia patients. These findings are comparable to other Indian studies. Appropriate knowledge of the clinical variability and unpredictable natural history can help better management of this group of patients. © Journal of the Association of Physicians of India 2011.
INTRODUCTION: Hemoglobin E beta-thalassemia is one of the leading forms of severe thalassemia world wide. This disorder is more commonly found in South East Asia including north eastern states of India. Patients suffering from this disorder show marked clinical heterogeneity. MATERIALS AND METHODS: Referred cases of hemoglobin disorders from north India were evaluated prospectively. Details of clinical history and haematological findings including HPLC as well as mutation analysis were obtained. RESULTS: Twenty cases of E beta-thalassemia with widely variable clinical profile were included. The hematological parameters were also extremely variable with a wide range of hemoglobin (1.8-9.9 g/dl). Applying a severity scoring system all patients were classified the patients into mild (n=6), moderate (n=7) and severe (n=7) subclasses. We also correlated red cell Indies with HB E and HB F as well as age of onset of symptoms with HB E and HB F. IVS1-5(G-C) was found to be the most common thalassemia mutation associated with Hemoglobin E beta-thalassemia. CONCLUSION: Extremely variable clinical and haematological findings were observed in Hemoglobin E beta-thalassemia patients. These findings are comparable to other Indian studies. Appropriate knowledge of the clinical variability and unpredictable natural history can help better management of this group of patients. © Journal of the Association of Physicians of India 2011.
Entities: Chemical
Mesh： See more »
Year: 2018
PMID： 31331134
Source DB: PubMed Journal: J Assoc Physicians India ISSN： 0004-5772