Outcome of intensive care of homozygous alpha-thalassaemia without prior intra-uterine therapy

Aim: To review the outcome of homozygous alpha-thalassaemia without prior intra-uterine therapy treated in neonatal intensive care unit and identify the factors associated with survival. Methods: The hospital records of all patients with homozygous alpha-thalassaemia treated in our neonatal intensive care unit in the last 15 years were reviewed. A literature search beginning in the year 1980 was done to identify homozygous alpha-thalassaemia actively treated in neonatal intensive care units. Those receiving prior intra-uterine therapy were excluded. The following information was collected: the severity of hydrops, sizes of liver and spleen, haemoglobin level, Apgar score at 5 min, ventilator settings, timing and forms of red blood cell transfusion and presence of persistent hypoxaemia. The survivors and the non-survivors were compared. Results: In our Centre, in the last 15 years there were six infants born with homozygous alpha-thalassaemia who did not receive intra-uterine therapy; one survived and five succumbed despite aggressive respiratory therapy. In our literature search there were more reports of survivors (10) than non-survivors (six) for these infants, suggesting a reporting bias towards selection of rare cases of survival. Apgar score of four or above occurred in seven of the eight survivors with data available in the reports, whereas this occurred in four of the 11 non-survivors (P = 0.035, Fisher Exact test). Five of the 11 survivors had abnormal neurological outcome including developmental delay and spastic quadriplegia. Conclusion: Without prior intra-uterine therapy, homozygous alpha-thalassaemia has grave outlook in terms of mortality and morbidity despite aggressive respiratory therapy.