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MIGNOTET , Morgane

Last name: MIGNOTET

First name: Morgane

July 2023 (v1)

Journal article

Metadata-only

Next generation sequencing (NGS) interest in deciphering erythrocyte molecular defects' association in red cell disorders: Clinical and erythrocyte phenotypes of patients with mutations inheritance in PIEZO1, Spectrin ß1, RhAG and SLC4A1

Allegrini, Benoit Nguyen, Ludivine David Mignotet, Morgane

We report here an instructive case referred at 16 months-old for exploration of hemolysis without anemia (compensated anemia with reticulocytosis). The biology tests confirmed the hemolysis with increased total and indirect bilirubin. The usual hemolysis diagnosis tests were normal (DAT, G6PD, PK, Hb electrophoresis) except cytology and...

Uploaded on: September 5, 2023