Journal Article

Prenatal diagnosis of hb h hydrops fetalis caused by haemoglobin ADANA

Das, S, Hamilton, S, Alberry, M, Thompson, D

2012

Overview

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.

• Publisher: BMJ Publishing Group Ltd and Royal College of Paediatrics and Child Health,BMJ Publishing Group LTD
• Subject: Karyotypes