Combination of two mutant alpha spectrin alleles underlies a severe spherocytic hemolytic anemia.

We studied a patient with a severe spherocytic hemolytic anemia without family history of spherocytosis. Analysis of patient's erythrocyte membrane proteins revealed spectrin deficiency and a truncated alpha spectrin protein. We determined that the patient is a compound heterozygote with two mutatio...

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Veröffentlicht in:	J Clin Invest
Hauptverfasser:	Wichterle, H, Hanspal, M, Palek, J, Jarolim, P
Format:	Artigo
Sprache:	Inglês
Veröffentlicht:	American Society for Clinical Investigation 1996
Schlagworte:	Research Article
Online-Zugang:	https://ncbi.nlm.nih.govhttps://pmc.ncbi.nlm.nih.gov/articles/PMC507680/ https://ncbi.nlm.nih.govhttps://pubmed.ncbi.nlm.nih.gov/8941647/ https://ncbi.nlm.nih.govhttps://doi.org/10.1172/JCI119041
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