Significance of the p.Phe218Ser and p.Gly304Glu F5 Variants in Hereditary Factor V Deficiency

Hereditary factor V (FV) deficiency is a rare autosomal recessive bleeding disorder caused by <i>F5</i> gene mutations. The objective of this study was to investigate the p.Phe218Ser and p.Gly304Glu variants found in 2 families with hereditary FV deficiency. The FV activity (FV:C) and FV antigen (FV:Ag) were measured by clotting and ELISA, respectively. The <i>F5</i> gene and sequence conservation were analyzed by direct sequencing and ClustalX-2.1-win, respectively. One proband carried a homozygous p.Phe218Ser (c.653T&#x3e;C) mutation, with FV:C and FV:Ag decreased to 11 and 14%, respectively. The other proband carried a heterozygous p.Gly304Glu (c.911G&#x3e;A) mutation, with FV:C and FV:Ag reduced to 55 and 62%, respectively. Phe218 and Gly304 were highly conserved in the homologous gene in 9 other species. We hypothesized that the p.Phe218Ser and p.Gly304Glu variants are deleterious and responsible for the reduction in FV:C and FV:Ag.

Exploration of the concept of Vikara Vighata Bhava Abhava w.s.r. to Prameha

The concept of Vikaravighata bhava abhava is related to the formation of the disease, Prameha. It has been explained in the Charaka Nidanasthana 4th chapter. The Aim of this study is to assess the role of Vikaravighata bhava abhava in the formation of the disease, Prameha. It gives knowledge to all the individuals about the causative factors of Diet and Lifestyle for the formation of the disease, Prameha. If the individuals avoid the causative factors of the disease, then there can be avoidance in the formation of the disease or delay in the occurrence of the disease. Even if there is Beeja dosha (Hereditary factor) of Prameha disease, there can be delay in the occurrence of the disease, if a person follows proper dietary and lifestyle regime. Thus, the literary concept of Vikaravighata bhava abhava has a major impact on the formation and prevention of the disease, Prameha.