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Erythrocyte membrane protein defects in hereditary spherocytosis patients in Turkish population.

Content Provider	World Health Organization (WHO)-Global Index Medicus
Author	Ayhan, Aylin Canbolat Yildiz, Inci Yüzbasioglu, Sedef Celkan, Tiraje Apak, Hilmi Ozkan, Alp Karaman, Serap
Spatial Coverage	Turkey
Description	Country affiliation: Turkey Author Affiliation: Ayhan AC ( Istanbul University, Cerrahpassa Medical Faculty, Adana, Turkey. canbolataylin@hotmail.com)
Abstract	Hereditary spherocytosis (HS) is a congenital hemolytic anemia which is characterized by spherocytes in peripheral blood and increased osmotic fragility test. The disease is caused by defects in red cell membrane cytoskeleton. In this study, we investigated erythrocyte membrane protein defects in 50 Turkish HS patients and 42 controls. We used sodium dodecyl sulfate polyacrylamide gel electrophoresis (SDS-PAGE) to identify the protein defects causing HS. The patients were from 27 families (39 kindred and 11 unrelated patients). They were aged between 6 months and 53 years and the mean age was 18.75 (±14.70) years. Protein deficiencies related to HS were demonstrated in 42% of study group. There was not any statistically significant relation between the protein deficiency and hemoglobin levels. Isolated or combined spectrin deficiency was the most common protein abnormality among our patients. Spectrin deficiency was detected in 22% of cases (11/50), ankyrin deficiency in 8% (4/50), protein 4.2 deficiency in 8% (4/50), combined spectrin and protein 4.2 deficiency in 2% (1/50), combined spectrin and ankyrin deficiency in 2% (1/50). Fifty-eight percent of cases (29/50) showed normal protein contents.
File Format	HTM / HTML
ISSN	10245332
Issue Number	4
Volume Number	17
e-ISSN	16078454
Journal	Hematology
Language	English
Publisher	Taylor & Francis
Publisher Date	2012-07-01
Publisher Place	Great Britain (UK)
Access Restriction	Subscribed
Subject Keyword	Discipline Hematology Erythrocyte Membrane Metabolism Membrane Proteins Spherocytosis, Hereditary Adolescent Adult Ankyrins Deficiency Child Child, Preschool Female Humans Infant Male Middle Aged Spectrin Turkey Young Adult Journal Article Research Support, Non-u.s. Gov't
Content Type	Text
Resource Type	Article
Subject	Hematology

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