Article
Genotype-phenotype correlation and risk stratification in a cohort of 123 hereditary stomatocytosis patients.
American journal of hematology - 1 Dec 2018
Andolfo Immacolata, Russo Roberta, Rosato Barbara Eleni, Manna Francesco, Gambale Antonella, Brugnara Carlo, Iolascon Achille
Abstract excerpt
Hereditary stomatocytoses (HSts) are a wide spectrum of hemolytic anemias in which the erythrocyte membrane cation permeability is increased. Dehydrated hereditary stomatocytosis is the most frequent among HSts. It is caused by missense mutations in PIEZO1 and KCNN4 genes. We described 123 patients enrolled in our Genetic Unit from 2013 to 2017. Overall HSt subjects exhibit macrocytic mild anemia. We found that...
Topics
- Anemia, Hemolytic, Congenital
- Cohort Studies
- Female
- Genetic Association Studies
- Humans
- Hydrops Fetalis
- Ion Channels
- Male
- Mutation
- Protein Domains
- Retrospective Studies
- Risk Assessment