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

Journal Article · Mon Sep 11 04:00:00 EDT 1995 · American Journal of Medical Genetics

DOI:https://doi.org/10.1002/ajmg.1320580306· OSTI ID:450739

Okamoto, Nobuhiko; Wada, Yoshinao; Nakamura, Yoich ^[1]

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1. Osaka Medical Center and Research Inst. for Maternal and Child Health, Tokyo (Japan); and others

We describe a 30-month-old boy with multiple anomalies and mental retardation with hereditary spherocytic anemia. His karyotype was 46,XYdel(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 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. 14 refs., 3 figs., 2 tabs.

• Sponsoring Organization: USDOE
• OSTI ID: 450739
• Journal Information: American Journal of Medical Genetics, Journal Name: American Journal of Medical Genetics Journal Issue: 3 Vol. 58; ISSN 0148-7299; ISSN AJMGDA
• Country of Publication: United States
• Language: English

Related Subjects

55 BIOLOGY AND MEDICINE
BASIC STUDIES
ANEMIAS
CHROMOSOMAL ABERRATIONS
CONGENITAL MALFORMATIONS
GENES
GENETIC MAPPING
GLUTATHIONE
HEREDITARY DISEASES
HUMAN CHROMOSOME 8
KARYOTYPE
MENTAL DISORDERS
METABOLIC DISEASES
PATIENTS
PHENOTYPE