Situation of thalassemia among high risk pregnonant women and their baby at the National Hospital of Obstetrics and gynecology - period 2016 - 2018

Abstract

A cross sectional description study aims to describe situation of thalassemia among high risk pregnant women and their baby at the national hospital of Obstetrics and gynecology -period 2016 - 2018. There were 120 pregnant women who had amniocentesis and tested for mutations in the thalassemia gene from amniotic fluid at the Prenatal Diagnosis Center in National Hospital of Obstetrics and Gynecology from October 2016 to September 2018. The result showed 80% Thalassemia
positive cases of which 74 cases diagnosed with alpha thalassemia gene mutation (61.6%), 36 cases of Homozygous α-thalassemia SEA deletion can cause severe thalassemia syndrome known as Hb Bart’s hydrops fetalis (30%), 9 cases carrying the genotype responsible for β-thalassemia major, và 24cases of undetected thalassemia mutations (20%). 14 cases of
hydrop fetalis are determined homogygous mutant SEA that were recommended a pregnancy termination due to the risk of preeclampsia, and postpartum haemorrhage. In conclusion, testing for thalassemia mutations in amniotic fluid samples of high-risk pregnant women is the great value in providing genetic counseling for thalassemia.