Laboratoire d’hématologie, Hôpital Nord, Marseille, France
Laboratoire d’hématologie, Hôpital de la Timone, Marseille, France
- Key words: ovalo-stomatocytes, SLC4A1, Advia, ovalocytosis, band 3
- DOI : 10.1684/abc.2017.1291
- Page(s) : 699-702
- Published in: 2017
Southeast asian ovalocytosis (SAO) is characterized by macro-ovalocytes and ovalo-stomatocytes on blood smear. SAO is common in Malaisia and Papua-New-Guinea where upwards to 40 per cent of the population is affected in some coastal region. Inherited in an autosomal dominant way, illness results from deletion of codons 400-408 in SLC4A1 gene which encodes for band 3 erythrocyte membrane protein. This deletion is responsible for an unusual erythrocyte stiffness and oval shape of the cells on blood smear. Heterozygous carriers are usually asymptomatic whereas homozygous are not viable without an intensive antenatal care. Here, we describe 4 patients diagnosed incidentally by cytogram appearance of the Advia® 2120i (Siemens) representing hemoglobin concentration according to red blood mean cellular volume (GR/VCH).