Erythroid membrane protein defects in hereditary spherocytosis. A study of 62 spanish cases

Haematologica

Volumn 85, Issue 9, 2000, Pages 994-995

  Ricard, M P ^a   Gilsanz, F ^a   Millan, I ^a  

^a HOSPITAL UNIVERSITARIO FUNDACIÓN ALCORCÓN   (Spain)

Author keywords

Ankyrin deficiency; Hereditary spherocytosis; Laboratory diagnosis; Prevalence; Spectrin deficiency

Indexed keywords

ANKYRIN; CELL MEMBRANE PROTEIN; SPECTRIN;

ARTICLE; CONTROLLED STUDY; DISEASE COURSE; ERYTHROID CELL; FAMILY HISTORY; HEREDITARY SPHEROCYTOSIS; HUMAN; LABORATORY DIAGNOSIS; MAJOR CLINICAL STUDY; PREVALENCE; PROTEIN DEFECT; PROTEIN DEFICIENCY; SPAIN;

ANION EXCHANGE PROTEIN 1, ERYTHROCYTE; ANKYRINS; ERYTHROCYTES; FAMILY HEALTH; HUMAN; MEMBRANE PROTEINS; RETICULOCYTES; SPAIN; SPECTRIN; SPHEROCYTOSIS, HEREDITARY; SUPPORT, NON-U.S. GOV'T;

EID: 0033782358     PISSN: 03906078     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (10)

1. Genetics of the red cell membrane skeleton
2. Hereditary spherocytosis: A review of the clinical and molecular aspects of the disease
3. Hereditary spherocytosis: From clinical to molecular defects
4. Inheritance pattern and clinical response to splenectomy as a reflection of erythrocyte spectrin deficiency in hereditary spherocytosis
5. Mutations of the red blood cell membrane proteins: From clinical evaluation to detection of underlying genetic defect
6. The preparation and chemical characteristics of hemoglobin free ghosts of human erythrocytes
7. Electrophoretic analysis of the major polypeptides of the human erythrocyte membrane
8. Apparently normal ankyrin content in unsplenectomized hereditary spherocytosis patients with the inactivation of one ankyrin (ANK1) allele
9. Linkage of dominant hereditary spherocytosis to the gene for the erythrocyte membrane-skeleton protein ankyrin
10. Ankyrin deficiency is the most common defect in dominant and non dominant hereditary spherocytosis