Novel compound heterozygous SPTA1 mutations in a patient with hereditary elliptocytosis

Molecular Medicine Reports
Shiyue MaFaquan Lin

Abstract

Hereditaryelliptocytosis (HE) is a hereditary hemolytic disease, characterized by the presence of many elliptical erythrocytes in the peripheral blood that is caused by abnormal cytoskeletal proteins in the erythrocyte membrane. In the present study, a novel, causal HE mutation was reported. Routine blood examinations were performed on the proband and their family, and the fluorescence intensity of eosin‑5‑maleimide (EMA)‑labeled erythrocytes was determined via flow cytometry. Subsequently, DNA was extracted from the peripheral blood of the proband and their family members, and amplified by quantitative polymerase chain reaction. The Sanger sequencing approach was used to determine and identify gene mutations, which were verified by matrix‑assisted laser desorption‑ionization time of flight (MALDI‑TOF) mass spectrometry. To exclude genetic polymorphisms, newly identified mutations were subjected to large‑scale gene screening using high‑resolution melt analysis. Protein expression levels in the erythrocyte membrane of the proband were determined via SDS‑PAGE, which demonstrated that, compared with healthy controls, the proband exhibited a reduction in EMA‑labeled erythrocytes. In addition, DNA analysis demonstrated that the prob...Continue Reading

References

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Sep 26, 2008·Haematologica·Whitney TolpinrudPatrick G Gallagher
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Methods Mentioned

BETA
PCR
Fluorescence
electrophoresis
genotyping
flow cytometry

Software Mentioned

Flow Jo
Premier
Chromas
Light Cycler 480 Gene Scanning
Quantity One

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