Spectrumof clinical variability in the IndianHbSâ thalassemia patients
S.Pandey, R.Saxena, R.M.Mishra, U.K.Chauhan, M.Sharma, S.W.Pandey
1Dept ofHematology,All India Institute ofMedical Sciences,AnsariNagar,New Delhi-110029, (INDIA)
2Dept ofEnvironmentalBiology,APSUniversity,Rewa-486003, (INDIA)
3Centre forBiotechnology Studies,APSUniversity,Rewa -486003, (INDIA)
4Dept ofHematology, SafdarjungHospital,AnsariNagar,New Delhi-110029, (INDIA)
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.