Hereditary elliptocytosis classification
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]
Overview
Classification
There are a number of different subtypes of hereditary elliptocytosis. A clinically significant haemolytic anaemia occurs only in 5-10% of sufferers, with a strong bias towards those with more severe subtypes of the disorder. The following categorisation of the disorder demonstrates its heterogeneity (in approximate order from least severe to most severe)[1]:
- Common hereditary elliptocytosis
- With asymptomatic carrier status - the individual has no symptoms of disease and diagnosis is only able to be made on blood film
- With mild disease - the individual has no symptoms and a mild and compensated haemolytic anaemia
- With sporadic haemolysis - the individual has a predilection towards haemolysis in the presence of particular comorbidities, including infections, and [[Cyanocobalamin|vitamin BTemplate:Ssub]] deficiency
- With neonatal poikilocytosis - during the first year of life only the individual has a symptomatic haemolytic anaemia with poikilocytosis
- With chronic haemolysis - the individual has a moderate to severe symptomatic haemolytic anaemia (this subtype has variable penetrance in some pedigrees)
- With homozygosity or compound heterozygosity - depending on the exact mutations involved, the individual may lie anywhere in the spectrum between having a mild haemolytic anaemia and having a life-threatening haemolytic anaemia with symptoms mimicking those of HPP (see below)
- With pyropoikilocytosis (HPP) - the individual is typically of African descent and has a life-threateningly severe haemolytic anaemia with micropoikilocytosis (small and misshapen erythrocytes) that is compounded by a marked instability of erythrocytes in even mildly elevated temperatures (pyropoikilocytosis is often found in burns victims and is the term is commonly used in reference to such people)
- Spherocytic elliptocytosis (also called hereditary haemolytic ovalocytosis) - the individual is typically of European descent and both elliptocytes and spherocytes are simultaneously present in their blood
- South-east Asian ovalocytosis (SAO) (also called stomatocytic elliptocytosis) - the individual is of South-East Asian descent (typically Malaysian, Indonesian, Melanesian, New Guinean or Filipino, has a mild haemolytic anaemia, and has resistance to malaria
References
- ↑ Coetzer T, Lawler J, Prchal JT and Palek J (1987). "Molecular Determinants of Clinical Expression of Hereditary Elliptocytosis and Pyropoikilocytosis" (PDF). Blood. 70 (3): 491–588. Retrieved 2006-10-31. Unknown parameter
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