Abstract:
Favism or G6PD deficiency (G6PDD) is a genetic disorder that affects an enzyme called Glucose-6-phosphate dehydrogenase (G6PD) that plays a crucial role in the oxidative protective mechanisms present in the cells. RBCs (red blood cells) are especially vulnerable to this condition and their death in large quantities results in clinical manifestations like anaemia and jaundice (which are common phenotypes for G6PDD). The gene for this enzyme is present on the X-chromosome and this means that females are more resistant to the disease phenotype than males. We encountered a case of G6PDD in which a female shows that symptoms of a homozygous mutant (having two mutant allele variants) even though she carries only one mutant allele. Upon further investigation, it was discovered that both of her CD-34 alleles have a unique kind of mutation, that has never been documented before. Since, CD-34 is important for hematopoietic stem cell functioning (that is responsible for RBC production), it is possible that this mutation may be influencing the severity of her G6PDD condition, explaining the her unique predicament. Our project explores this curious connection between G6PDD and CD-34, exploring how this mutation in CD34 influences the G6PDD severity.

Bio:
Ashar Rais is a student in the Bioscience department currently pursuing Master's degree. He did his Bachelor's studies in Biochemistry from the Aligarh Muslim University in India, learning about cellular systems and integration of information from the microenvironment. His M.S. thesis work was done under the supervision of Professor Jasmeen Merzaban, and it focusses on studying signalling and migration of hematopoietic cells in normal and pathological contexts.