Combined Ankyrin and Spectrin Deficiency in Hereditary Spherocytosis

Overview

Journal Ann Hematol

Specialty Hematology

Date 1993 Aug 1

PMID 8347735

Citations 3

Authors

A Pekrun

S W Eber

A Kuhlmey

W Schroter

Affiliations

Soon will be listed here.

Abstract

Hereditary spherocytosis is characterized by a reduced spectrin content of the erythrocytes. However, the underlying primary defect remains unclear in the majority of cases. Genetic studies have revealed a linkage to the gene for ankyrin in some families. By means of ELISA we measured the ankyrin, spectrin, and band-3 contents in erythrocytes of 45 patients with typical spherocytosis. They were classified as having mild or moderate spherocytosis, according to clinical severity. Sixteen patients with mild spherocytosis showed slight reductions of ankyrin and spectrin contents. In contrast, 29 patients with moderate spherocytosis exhibited a clear reduction of both ankyrin and spectrin to about 60% of normal. Band 3 and lipid phosphorus, as measures for membrane surface area, were only slightly reduced to 85%. Our results, together with the molecular genetic data indicating the linkage between spherocytosis and the gene for ankyrin, suggest an ankyrin defect or deficiency as the primary lesion in most cases of spherocytosis.

Citing Articles

Ankyrin-linked hereditary spherocytosis in an African-American kindred.

Sangerman J, Maksimova Y, Edelman E, Morrow J, Forget B, Gallagher P Am J Hematol. 2008; 83(10):789-94.

PMID: 18704959 PMC: 11304496. DOI: 10.1002/ajh.21254.

An 11-amino acid beta-hairpin loop in the cytoplasmic domain of band 3 is responsible for ankyrin binding in mouse erythrocytes.

Stefanovic M, Markham N, Parry E, Garrett-Beal L, Cline A, Gallagher P Proc Natl Acad Sci U S A. 2007; 104(35):13972-7.

PMID: 17715300 PMC: 1950715. DOI: 10.1073/pnas.0706266104.

A nonsense mutation 1669Glu-->Ter within the regulatory domain of human erythroid ankyrin leads to a selective deficiency of the major ankyrin isoform (band 2.1) and a phenotype of autosomal dominant hereditary spherocytosis.

Jarolim P, RUBIN H, Brabec V, PALEK J J Clin Invest. 1995; 95(3):941-7.

PMID: 7883994 PMC: 441425. DOI: 10.1172/JCI117802.

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