Homozygous alpha-thalassaemia and hypospadias--common aetiology or incidental association? Long-term survival of Hb Bart's hydrops syndrome leads to new aspects for counselling of alpha-thalassaemic traits.
Fetuses with homozygous alpha-thalassaemia develop Hb Bart's hydrops fetalis syndrome, which usually leads either to abortion or fetal/neonatal death. We report diagnosis, intrauterine transfusion therapy, neonatal intensive care management and long-term follow-up of a Vietnamese infant who survived Hb Bart's hydrops fetalis syndrome. During the first 2 years the child had normal development. In addition, the patient exhibited penoscrotal hypospadias. Despite a thorough endocrinological work-up the aetiology of genital ambiguity could not be elucidated. A review of the literature showed an association of homozygous alpha-thalassaemia and hypospadias in all surviving male children, suggesting a common aetiology for both entities.


CONCLUSIONS
On the basis of our findings, we speculate that an unknown gene on chromosome 16 responsible for genital formation is altered in homozygous alpha-thalassaemia.
Dame
C
C
Children's Hospital, University of Bonn, Germany. dame@uni-bonn.de
Albers
N
N
Hasan
C
C
Bode
U
U
Eigel
A
A
Hansmann
M
M
Brenner
R
R
Bartmann
P
P
D002885:Chromosomes, Human, Pair 16; D006455:Hemoglobins, Abnormal / Q000235:genetics*; D006720:Homozygote; D006801:Humans; D015160:Hydrops Fetalis / Q000150:complications / Q000175:diagnosis / Q000235:genetics* / Q000628:therapy; D007021:Hypospadias / Q000150:complications / Q000235:genetics*; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D014744:Vietnam / Q000208:ethnology; D017085:alpha-Thalassemia / Q000150:complications / Q000235:genetics*
D006455:Hemoglobins, Abnormal; C030448:hemoglobin Bart's