We are attempting to establish a comprehensive diagnostic strategy for Fanconi Anemia (FA) and evaluate the genotype-phenotype correlation of this disease. We culture fibroblasts and mesenchymal stem cells from patient samples and study the ubiquitination of FANCD2 protein. We have also established real time PCR strategy for the accurate qunatitation of the thirteen FA gene transcripts.
Allogeneic Stem Cell Transplantation forThalassemia Major. Hematol Oncol Clin North Am. 2014 Dec;28(6):1187-1200. doi: 10.1016/j.hoc.2014.08.009. Mathews V, Srivastava A, Chandy M. Epub 2014 Sep 22. Review. PubMed PMID: 25459187.