Keep calm and factor this

Abstract

People suffering from haemophilia, an inherited disorder, will bleed for much longer after an injury, bruise easily, and risk internal bleeding in joints or brain. This is a widely studied condition with unique variations in the disorder to Malta. While pursuing an M.Sc. in Applied Biomedical Science, I have profiled and found the contributing genes in all Maltese patients and compared them to patients abroad. The genes that code for important clotting factors in blood are located on human sex chromosome X. This means that a woman will be ill only if she receives it from both parents, explaining the much higher manifestations of the disorder among men (men only inherit one X chromosome). In Malta, both factor deficiencies are rare: around 30 to 40 patients by either Haemophilia A or B. There are two types of the disease (factor VIII and IX), and their DNA variations are known and documented. But this study uniquely mapped both types of haemophilia.