M. Mamata

Department Molecular Genetics, Kamala Hospital and Research Centre for Thalassemia and Sickle Cell Patients, Hyderabad, India

Publications

• Research Article   
  Rare Phenomenon of Psedodominance Causing Phenotypic Heterogeneity in the Expression of Delta Beta Thalassemia when Co-Inherited with Beta Mutation
  Author(s): G. Padma, K. Saroja and M. Mamata
  
  Delta beta thalassemia is a rare form of thalassemia characterized by complex pattern of phenotypes with varying degrees of severity depending on the gene mutation involved. Hence, accurate diagnosis of the patient becomes utmost important for proper treatment and genetic counselling to the patients. Four patients (3<1 yr and 1-4 yrs) initially diagnosed as thalassemia major based on their HPLC were reinvestigated based on parents HPLC (HbF<20% in one of the parents) by molecular screening using sequencing and Gap PCR. Sequencing of all the patients for HBB gene revealed homozygosity for c.92+5G>C (IVS1-5(G>C)) mutation in three patients and c.315+1G>A in one patient. All showed heterozygosity for Asian Indian Inversion deletion ((Gγ(Aγδβ)0) when tested for delta beta deletions. One of the parents showed ca.. Read More»