Neonatal hyperbilirubinemia associated with Southeast Asian ovalocytosis

Two families in Sri Lanka with Southeast Asian ovalocytosis.

Southeast Asian ovalocytosis in a South African kindred with hemolytic anemia.

Southeast Asian ovalocytosis (SAO) is a dominantly inherited disorder that is widespread in certain ethnic groups of Malaysia, Indonesia, Papua New Guinea, and the Philippines.’,2 SA0 red blood cells (RBCs) are ovalocytic in shape, rigid, and resistant to invasion by different strains of malaria parasites.’l’ Membranes of SA0 RBCs do not undergo salt-induced crenation,’ and several blood group ...

Incidental finding of 3 Southeast Asian ovalocytosis cases by attentive examination of blood smears.

A 52-year-old Malaysian man, a 24-year-old sub-Saharan woman, and a 28-year-old Madagascan woman (who was heterozygous for hemoglobin S) were admitted to North Hospital in Marseilles, France. Blood tests using an Advia2120i hematology analyzer (Siemens) showed no or mild anemia (109-150 g/L), normal or high mean corpuscular hemoglobin concentration (339-364 g/L), and borderline or slightly high...

A case of distal renal tubular acidosis, Southeast Asian ovalocytosis and possible fluorosis.

A 39-year old man had periodic paralysis due to hypokalaemia. Investigations led to the diagnosis of distal renal tubular acidosis (dRTA) and Southeast Asian ovalocytosis (SAO). Both can originate in mutations of the anion-exchanger 1 gene (AE1), which codes for band 3, the bicarbonate/chloride exchanger in both the red cell membrane and the basolateral membrane of the collecting tubule alpha-i...

Trafficking defects of the Southeast Asian ovalocytosis deletion mutant of anion exchanger 1 membrane proteins.

Human AE1 (anion exchanger 1) is a membrane glycoprotein found in erythrocytes and as a truncated form (kAE1) in the BLM (basolateral membrane) of a-intercalated cells of the distal nephron, where they carry out electroneutral chloride/bicarbonate exchange. SAO (Southeast Asian ovalocytosis) is a dominant inherited haematological condition arising from deletion of Ala400-Ala408 in AE1, resultin...