Article Text

PDF
Fetal Medicine Posters
Prenatal diagnosis of hb h hydrops fetalis caused by haemoglobin ADANA
  1. M Alberry1,
  2. S Hamilton1,
  3. S Das2,
  4. D Thompson2
  1. 1Hinchingbrooke Hospital - NHS Trust, Huntingdon, United Kingdom
  2. 2Luton and Dunstable Hospital - NHS Trust, Luton, United Kingdom

Abstract

We present a rare case of fetal α thalassaemia with hydrops fetalis born to a Filipino couple. Maternal Hb suggested α-thalassaemia trait. Given the high risk ethnic background for α0-thalassaemia the couple were tested for α-globin gene cluster which showed highly unstable alpha-chain variant Hb Adana leading to an α+thalassaemia phenotype. The risk for hydrops fetalis was 1 in 4. Amniocentesis showed normal karyotype. DNA analysis from amniocytes showed the fetus to be compound heterozygous for the α0–thalassaemia deletion and the Hb Adana mutation (genotype --FIL/ααAdana). The partners declined any interventions. Hydrops fetalis developed and intrauterine fetal death was diagnosed 28 weeks of gestation. National screening algorithm aims to identify couples at risk of Hb Barts hydrops fetalis due to homozygous α0-thalassaemia. Couples at risk for non deletional Hb H disease in England may not be identified by routine screening.

Statistics from Altmetric.com

Request permissions

If you wish to reuse any or all of this article please use the link below which will take you to the Copyright Clearance Center’s RightsLink service. You will be able to get a quick price and instant permission to reuse the content in many different ways.