GENETIC ANALYSIS OF HAEMOPHILIA CARRIER STATUS. SESSION TITLE: CURRENT LABORATORY ISSUES IN GENETICS ANALYSIS.

DE BRASI, CARLOS DANIEL; ROSSETTI, LILIANA CARMEN; RADIC, CLAUDIA PAMELA

Melburne

Congreso; . The XXXIII International Congress of the World Federation of Hemophilia; 2018

As a medium income country from Latin-America, in Argentina, the laboratory procedures for genetic analysis of haemophilia in are characterised by its cost-effectivity, covering virtually all requirements to offer a proper genetic counselling to affected families including a reliable carrier diagnosis. The aim of this section is to show our up-to-date set of applied molecular approaches for genotyping the F8 and F9 achieving carrier diagnosis in HA and HB, respectively; and to discuss the indispensable technical approaches to analyse and understand the molecular basis of haemophilia symptoms expression in carriers and in genetic mosaicisms.