Hereditary stomatocytosis: First case report from Valley of Kashmir

• Main Authors: Javid Rasool, Fahim Manzoor, Shuaeb Bhat, Nusrat Bashir, Sajad Geelani
• Format: Article
• Language: English
• Published: Wolters Kluwer Medknow Publications 2015-01-01
• Series: Medical Journal of Dr. D.Y. Patil University
• Subjects: Hereditary; stomatocytes
• Online Access: http://www.mjdrdypu.org/article.asp?issn=0975-2870;year=2015;volume=8;issue=3;spage=347;epage=349;aulast=Rasool

Stomatocytes are erythrocytes with a central slit or mouth-shaped (stoma) area of central pallor when examined on dried smears. In wet preparations, they are uniconcave rather than biconcave, giving them a bowllike appearance. In vitro, stomatocytes are produced by drugs that intercalate into the inner half of the lipid bilayer, thereby expanding the inner lipid surface area relative to that of the outer half of the bilayer. Hereditary stomatocytosis (also known as hereditary hydrocytosis, or overhydrated stomatocytosis) refers to a heterogeneous group of autosomal dominant hemolytic anemias caused by altered sodium permeability of the red cell membrane. We present the first case report of hereditary stomatocytosis in a 10-year-old male from the valley of Kashmir. Only eight families with this condition have been described worldwide.