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Hereditary spherocytic anemia with deletion of the short arm of chromosome 8

1995; Wiley; Volume: 58; Issue: 3 Linguagem: Inglês

10.1002/ajmg.1320580306

1096-8628

Nobuhiko Okamoto, Yoshinao Wada, Yoich Nakamura, Masahiro Nakayama, Hideaki Chiyo, Kikuno Murayama, Takahumi Inoue, Akio Kanzaki, Yoshihito Yawata, Akira Hirono, Shiro Miwa,

Hemoglobinopathies and Related Disorders

Abstract We describe a 30‐month‐old boy with multiple anomalies and mental retardation with hereditary spherocytic anemia. His karyotype was 46,XY,del(8)(p11.23p21.1). Genes for ankyrin and glutathione reductase (GSR) were localized to chromosome areas 8p11.2 and 8p21.1, respectively. Six patients with spherocytic anemia and interstitial deletion of 8p– have been reported. In these patients, severe mental retardation and multiple anomalies are common findings. This is a new contiguous gene syndrome. Lux et al. [1990: Nature 345:736–739] established that ankyrin deficiency and associated deficiencies of spectrin and protein 4.2 were responsible for spherocytosis in this syndrome. We reviewed the manifestations of this syndrome. Patients with spherocytic anemia and multiple congenital anomalies should be investigated by high‐resolution chromosomal means to differentiate this syndrome. © 1995 Wiley‐Liss, Inc.