Long-Term Survival of a Baby with Homozygous Alpha-Thalassemia-1

Abstract

Triplets born to a Chinese woman consisted of 2 healthy boys and a girl with hemoglobin Bart’s hydrops syndrome. The girl with hemoglobin Bart’s hydrops syndrome, confirmed by gene analysis to be homozygous for α-thalassemia-1, survives for 27 months at the time of reporting. The dilemma in sustaining her life and the availability of other therapeutic options are briefly discussed. This is the third case report of homozygous α-thalassemia-1 with long-term survival.

Limb defects and congenital anomalies of the genitalia in an infant with homozygous α-thalassemia

“…Homozygous ␣-thalassemia usually is lethal in the perinatal period, although there have been occasional long-term survivors [Beaudry et al, 1986;Bianchi et al, 1986;Lam et al, 1992]. These infants require lifelong transfusion therapy, but there is little information available about other problems, including congenital anomalies in these children.…”

Limb reduction defects in fetuses with homozygous α-thalassaemia-1

“…Some babies who have had multiple in utero transfusions or aggressive postnatal resuscitation have survived the disease (Carr et al, 1996;Beaudry et al, 1986;Bianchi et al, 1986;Lam et al, 1992). Recently, there has been interest in treating these fetuses with in utero transplantation of haematopoietic stem cells, but with no success (Westgren et al, 1996).…”

Pathophysiology and therapy for haemoglobinopathies; Part II: thalassaemias

“…The most common deletions that give rise to α + -thalassaemia are a 4.2 kb or 3.7 kb deletion in the α2-gene (α 4.2 or α 3.7 ), each resulting from an unequal cross-over (Ref. Of the moresevere α-thalassaemias, HbH disease usually reflects the compound heterozygous state for α 0 and α + , where the α-globin produced in RBCs is essentially the product of one normal α-globin gene ( Refs 32,143), and Bart's hydrops fetalis syndrome results from the homozygous state for α 0 -thalassaemia (deletion/mutation of all four αgenes) ( Refs 27,144). The α 0 -thalassaemia phenotype is caused by several deletions affecting both α-globin genes, either deleted in cis (on the same chromosome) or in trans (one deletion on each of the chromosomes), and probably arising from illegitimate recombination.…”