Haemoglobin E Iron Metabolism
Iron is an essential factor for many cell functions and is a major functional component of hemoglobin. Iron homeostasis is multifaceted and is tightly regulated, as increased iron stores are detrimental to he cell. With the recent advancements in molecular techniques and identification of new genes, we now understand the many links of iron metabolism and how it is handled in the body.
Genetic variants in several genes have been shown to influence the expression and function of them. I am interested in the role of genetic variants in the genes involved in iron homeostasis and how they influence the body iron status in addition to well established factors like nutrition and environmental factors, especially in iron deficiency anemia. We are also analyzing the role of these genetic variants in the heterogeneity of response to iron supplements. We are studying the influence of these genetic variants in the response to iron supplementation during pregnancy. When iron stores are limited during pregnancy, the fetus gets the priority for the iron at the expense of the mother. We are studying the mechanisms which facilitate this transport.
I am also working on the role of genetic factors influencing the phenotype in haemoglobin E syndromes. We are in the process of establishing a comprehensive genetic screening panel by NGS for primary immunodeficiency disorders and inherited bone marrow failure syndromes.