Summary Top of page Summary References Appendices Hereditary spherocytosis (HS) is a heterogeneous group of disorders with regard to clinical severity, protein defects and mode of inheritance. It is relatively common in Caucasian populations; most affected individuals have mild or only moderate haemo...
Abstract Hereditary spherocytosis (HS), a common form of inherited hemolytic anemia, is a hetero- geneous group of disorders with regard to clinical severity, protein defects, and mode of inheritance. Causal mutations in at least five genes have been reported so far. Because ...
Hereditary spherocytosis (HS), a common form of inherited hemolytic anemia, is a heterogeneous group of disorders with regard to clinical severity, protein defects, and mode of inheritance. Causal mutations in at least five genes have been reported so far. Because multiple genes have been associate...
We sequenced a total target length of 259-kb regions using the paired-end 150-bp rapid-run sequencing mode on an Illumina HiSeq 2500 platform. The mean sequencing depth for the targeted regions (259-kb) was 231-fold (n = 59). Because a matched control sample was not included in ...
Examination of the erythrocyte membrane proteins revealed a deficiency of the major membrane skeletal protein, spectrin (about 75% of normal) which is probably the basic genetic defect of hereditary spherocytosis. Examination of the patient's family revealed a recessive mode of inheritance. The ...
we subjected all samples to a further evaluation taking into account 117 anaemia-relevant genes. The aim was to characterize the variant/gene spectrum in a local collective, elucidate the mode of inheritance in the families (autosomal dominant, recessive, de novo) and address the question whether...