Further evidence for location of the spherocytosis gene on chromosome 8

E. B. Bass, S. W. Smith, R. E. Stevenson, W. F. Rosse

Research output: Contribution to journalArticle

Abstract

Hereditary spherocytosis (HS) is a form of hemolytic anemia transmitted as an autosomal dominant trait. To date, the HS gene has not been mapped to a specific chromosome. Kimberling and associates reported a family containing 14 members with both HS and a balanced translocation between the short arms of chromosomes 8 and 12 (t(8;12) (p11; p13). This linkage between hereditary spherocytosis and the translocation would place the HS locus on chromosome 8 or chromosome 12. We report a mother and son with hereditary spherocytosis and a balanced translocation between chromosomes 3 and 8 and suggest that the HS gene is on chromosome 8.

Original languageEnglish (US)
Pages (from-to)192-193
Number of pages2
JournalAnnals of internal medicine
Volume99
Issue number2
DOIs
StatePublished - Jan 1 1983
Externally publishedYes

ASJC Scopus subject areas

  • Internal Medicine

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