Article
Hereditary xerocytosis - spectrum and clinical manifestations of variants in the PIEZO1 gene, including co-occurrence with a novel β-globin mutation.
Blood cells, molecules & diseases - 1 Feb 2020
Maciak Karolina, Adamowicz-Salach Anna, Siwicka Alicja, Poznanski Jaroslaw, Urasinski Tomasz, Plochocka Danuta, Gora Monika, Burzynska Beata
Abstract excerpt
Hereditary xerocytosis (HX) is a rare, autosomal dominant congenital hemolytic anemia (CHA) characterized by erythrocyte dehydration with presentation of various degrees of hemolytic anemia. HX is often misdiagnosed as hereditary spherocytosis or other CHA. Here we report three cases of suspected HX and one case of HX associated with β-thalassemia. Sanger method was used for sequencing cDNA of the PIEZO1 gene....
Topics
- Adolescent
- Alleles
- Anemia, Hemolytic, Congenital
- Child, Preschool
- DNA Mutational Analysis
- Erythrocyte Indices
- Erythrocytes, Abnormal
- Female
- Genetic Association Studies
- Genotype