Applied Cell Biology

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Spectrumof clinical variability in the IndianHbSâ thalassemia patients

S.Pandey, R.Saxena, R.M.Mishra, U.K.Chauhan, M.Sharma, S.W.Pandey

Abstract

Patients of sickle beta thalassemia show the clinical variability in mild to moderate manner. Co-inheritance of â+ thalassemia and â0 thalassemia showed great clinical variability. This phenotypic heterogeneity mainly depends on the â thalassemia mutations. In our cases the hematological and clinical features were mild in HbSâ+ patients where the HbSâ0 patients showed the severe phenotype. Seven common thalassemia mutation present in the patients with variable frequency and mild to severe phenotypes of HbSâ+ as well as HbSâ0 thalassemia patients. Conclusion of the study was the HbSâ+ patient’s clinical feature resulted as thalassemia intermedia while HbSâ0-thalassemia patient’s clinical feature closely related with sickle homozygous. 

Keywords

HPLC; Sickle cell; Hemoglobinopathies