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Article

Combined spectrin and ankyrin deficiency is common in autosomal dominant hereditary spherocytosis

15 Nov 1993

Abstract excerpt

The common autosomal dominant form of hereditary spherocytosis (HS) has been genetically linked to defects of the erythroid ankyrin gene in a few families; however, the frequency of ankyrin deficiency and its relationship to red blood cell (RBC) spectrin content are unknown. To test these questions, we measured RBC spectrin and ankyrin by radioimmunoassay in 39 patients from 20 families with dominant HS. Normal...

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PMID: 8219186
DOI: 10.1182/blood.v82.10.2953.2953

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