A novel PIEZO1 mutation in a patient with dehydrated hereditary stomatocytosis: a case report and a brief review of literature

Table 2 DHS and spherocytosis in comparison

	DHS	Spherocytosis
MCHC	Increased	Increased
RDW	Increased	Increased
MCV	Tendency to macrocytosis	Normal or slightly reduced
Peripheral blood smear	Stomatocytes	Spherocytes
Splenomegaly	mild / moderate	Variable from mild to severe
EMA test and RBCs lysis tests	Normal/Increased	Decreased
Ectacytometry	Normal EImax and left shift of Omin and OHyper due to the presence of dehydrated red cells.	Reduction of EImax, shift to the right of Omin point (reduced surface / volume ratio) and shift to the left of Ohyper point (increased dehydration of the red cells).
Causative genes	PIEZO1/ KCNN4	ANK1/ SPTB/ SPTA1/ SLC4A1/ EPB42

ISSN: 1824-7288