Southeast asian ovalocytosis in white persons

Abstract

We describe two White persons, a girl and her mother, presenting with Southeast Asian ovalocytosis. The child was evaluated for scoliosis. The red cell indices were normal but the cell counter triggered an alarm due to a high fraction of hyperdense red cells. Blood smears showed ovalocytes and ovalo-stomatocytes. Red cells exhibited a total lack of deformability upon osmotic gradient ektacytometry performed immediately after blood drawing. Analysis of nucleic acids and proteins ascertained a 27 nucleotide deletion, resulting in the loss of amino acids 400 to 408, and the presence in cis of the Memphis I polymorphism. The sulfate transport was diminished by more than 50%. There was no acidosis. In vitro invasion of ovalocytes by Plasmodium falciparum was decreased. The mother presented with the same hematological picture. On the whole, the condition was Southeast Asian ovalocytosis in all respects. The present kindred had ancestors who had inhabited islands in the Southwestern Indian Ocean.

Key Words:

• Southeast Asian ovalocytosis (SAO)
• White persons
• stomatocytes
• ovalo-stomatocytes

Additional information

Notes on contributors

C. Magowan

Joyce Laing works in the Department of Child and Family Psychiatry, Playfield House, Cupar, Fife, and is a Consultant Art Therapist to Psychiatric Hospitals and Prisons and Chairwoman of the Scottish Society of Art and Psychology.