Spectrin Tunis (αI/78): A New αI Variant That Causes Asymptomatic Hereditary Elliptocytosis in the Heterozygous State

Spectrin Tunis (α1/78) was found in the heterozygous state in a young white North-African man and his mother. Both of them presented with mild elliptocytosis. Using one-dimensional electrophoresis, a sharp 78 kd fragment was present with a reciprocal decrease of the al 80 kd domain. Kinetic analysis...

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Veröffentlicht in:	Blood 1988-02, Vol.71 (2), p.508-511
Hauptverfasser:	Morle, L., Alloisio, N., Ducluzeau, M.T., Pothier, B., Blibech, R., Kastally, R., Delaunay, J.
Format:	Artikel
Sprache:	eng
Schlagworte:	Adult Anemias. Hemoglobinopathies Biological and medical sciences Diseases of red blood cells Elliptocytosis, Hereditary - blood Elliptocytosis, Hereditary - genetics Hematologic and hematopoietic diseases Heterozygote Humans Male Medical sciences Molecular Weight Peptide Fragments - analysis Spectrin - genetics Tunisia
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