Hereditary elliptocytosis classification
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]
Overview
Classification
The most common type of elliptocytosis is Common hereditary elliptocytosis and it has been more than other types investigated. Common hereditary elliptocytosis has a great variety in the clinical symptoms and severity. 5-10% of patients with this form of elliptocytosis manifest clinically significant haemolytic anaemia , whereas other subtypes of this disease present more sever symptoms.
The classification of hereditary elliptocytosis types and it's heterogeneity is demonstrated below ,it is organized from the least severe to the most severe.[1]:
- Common hereditary elliptocytosis
- asymptomatic carriers : the individual presenting no symptoms of disease and this subtype is only diagnosed via peripheral blood smear.
- Mild disease - the individual has a mild and compensated haemolytic anaemia but manifests no symptoms.
- 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 [2]
- Southeast Asian ovalocytosis and spherocytic elliptocytosis are less common subtypes predominantly affecting those of south-east Asian and European ethnic groups, respectively.
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
|month=ignored (help) - ↑ Coetzer T, Lawler J, Prchal JT, Palek J (1987). "Molecular determinants of clinical expression of hereditary elliptocytosis and pyropoikilocytosis". Blood. 70 (3): 766–72. PMID 3620700.