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.
ASJC Scopus subject areas
- Internal Medicine