Tangier disease

Tangier disease (TD) is a rare lipoprotein metabolism disorder characterized biochemically by an almost complete absence of plasma high-density lipoproteins (HDL), and clinically by liver, spleen, lymph node and tonsil enlargement along with peripheral neuropathy in children and adolescents, and, occasionally, cardiovascular disease in adults.

Stomatocytosis

The presence of erythrocytes with a mouth-shaped (stoma) area of central pallor on peripheral blood smear.


Total: 1

                      


(per page)
PMID (PMCID)
2757970
FEMALE Middle Aged
Haemolytic anaemia in analpha-lipoproteinaemia (Tangier disease): morphological, biochemical, and biophysical properties of the red blood cell.
Reinhart WH, Gossi U, Butikofer P, Ott P, Sigrist H, Schatzmann HJ, Lutz HU, Straub PW.
Br J Haematol. 1989;72(2):272-7.
A patient with familial analpha-lipoproteinaemia (Tangier disease) was found to have stomatocytosis and haemolytic anaemia.