Is homozygous alpha-thalassaemia a lethal condition in the 1990s?
Two cases of homozygous alpha-thalassaemia who received active treatment in accordance with parental wishes are reported. One infant survived and the other, although successfully weaned off mechanical respiratory support, unexpectedly developed portal vein thrombosis and died. Homozygous alpha-thalassaemia, a condition previously considered to be universally fatal, and an indication for therapeutic abortion, is now potentially curable with advances in diagnostic technology and treatment. However, active management of these cases raises serious ethical questions and has major financial implications on the health-care system. Invasive prenatal and intensive postnatal interventions should remain experimental and cannot be recommended as routine clinical practice until the questions of long-term neurodevelopmental outcome, and the morbidity and mortality associated with bone-marrow transplantation have been fully addressed. As a result of advances in information technology, more and more parents of affected foetuses are likely to request active treatment.
Ng
P C
PC
Department of Paediatrics, Prince of Wales Hospital, Chinese University of Hong Kong.
Fok
T F
TF
Lee
C H
CH
Cheung
K L
KL
Li
C K
CK
So
K W
KW
Wong
W
W
Yuen
P M
PM
D017809:Fatal Outcome; D005260:Female; D006801:Humans; D015160:Hydrops Fetalis / Q000401:mortality / Q000628:therapy*; D007231:Infant, Newborn; D008297:Male