HEREDITARY SPHEROCYTIC ANEMIA WITH DELETION OF THE SHORT ARM OF CHROMOSOME-8

We describe a 30-month-old boy with multiple anomalies and mental reta rdation with hereditary spherocytic anemia. His karyotype was 46,XY,de l(8)(p11.23p21.1). Genes for ankyrin and glutathione reductase (GSR) w ere localized to chromosome areas 8p11.2 and 8p21.1, respectively. Six patients with spherocytic anemia and interstitial deletion of 8p- hav e been reported. In these patients, severe mental retardation and mult iple anomalies are common findings, This is a new contiguous gene synd rome, Lux et al. [1990: Nature 345:73;739] established that ankyrin de ficiency and associated deficiencies of spectrin and protein 4.2 were responsible for spherocytosis in this syndrome. We reviewed the manife stations of this syndrome. Patients with spherocytic anemia and multip le congenital anomalies should be investigated by high-resolution chro mosomal means to differentiate this syndrome. (C) 1995 Wiley-Liss, Inc .