Last update 08 May 2025

Ovalocytosis, Malaysian-Melanesian-Filipino Type

Basic Info

Synonyms
EL4, ELLIPTOCYTOSIS 4, ELLIPTOCYTOSIS, STOMATOCYTIC HEREDITARY
+ [14]
Introduction
A rare hereditary red cell membrane defect characterised by the presence of oval-shaped erythrocytes. Most patients are asymptomatic or occasionally have mild symptoms such as pallor, jaundice, anaemia and gallstones. The disease is common in Southeast Asian and Western Pacific countries and can occur at any age. Results from a 27 bp deletion in the SLC4A1 gene, localised on chromosome 17q21.31 (SLC4A1del27 mutation). This gene codes for a band 3 anion transport protein which is the bicarbonate/chloride exchanger in red blood cell membranes and defects in this protein cause membrane rigidity. The disease follows an autosomal dominant pattern of inheritance.

Analysis

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