The disease severity correlated to the level of a-spectrin protein in their RBC cytoskeleton but was also affected by other factors. Patients carrying the low expression aLEPRAallele in trans to a …
The Spectrum of Alpha-Spectrin Associated Hereditary Spherocytosis
Dec 3, 2015 · RBC phenotype explored after splenectomy revealed an ektacytometry curve indicating spherocytosis (Figure 1A) and severely decreased alpha-spectrin on immunoblotting …
Frontiers | Corrigendum: The Spectrum of SPTA1-Associated Hereditary ...
Oct 18, 2019 · Keywords: SPTA1, α-spectrin, α LEPRA, hereditary spherocytosis, next generation sequencing, hemolytic anemia, hydrops fetalis Citation: Chonat S, Risinger M, Sakthivel H, …
The Spectrum of SPTA1-Associated Hereditary Spherocytosis.
The disease severity correlated to the level of α-spectrin protein in their RBC cytoskeleton but was also affected by other factors. Patients carrying the low expression αLEPRA allele in trans to a …
The Spectrum of SPTA1-Associated Hereditary Spherocytosis
They have suboptimal 1 July 2019 | Volume 10 | Article 815 Chonat et al. SPTA1-Associated Hereditary Spherocytosis reticulocytosis or reticulocytopenia and remain transfusion …
The Spectrum of SPTA1-Associated Hereditary Spherocytosis.,Frontiers …
The disease severity correlated to the level of α-spectrin protein in their RBC cytoskeleton but was also affected by other factors. Patients carrying the low expression αLEPRA allele in trans to a …
The Spectrum of Alpha-Spectrin Associated Hereditary Spherocytosis
Dec 3, 2015 · RBC phenotype explored after splenectomy revealed an ektacytometry curve indicating spherocytosis (Figure 1A) and severely decreased alpha-spectrin on immunoblotting …
NM_003126.4 (SPTA1):c.4339-99C>T AND Hereditary spherocytosis
May 19, 2020 · The c.4339-99C>T variant in SPTA1 (also known as α-LEPRA) has been reported in the homozygous or compound heterozygous state in >15 individuals with …
Frontiers | Peer Reviewed Articles - Open Access Journals
The disease severity correlated to the level of α-spectrin protein in their RBC cytoskeleton but was also affected by other factors. Patients carrying the low expression α LEPRA allele in trans to …
Correlation of Genetic Mutation With Outcomes in Children With ...
Apr 1, 2025 · Hereditary Spherocytosis (HS) is a common genetic hematological disorder causing a life-long hemolytic anemia, with sequela of hemolysis. Children with severe HS commonly …