Hereditary elliptocytosis

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Hereditary Elliptocytosis
Hereditary Elliptocytosis, or ovalocytosis, is an inherited blood disorder in which RBC
is elliptical rather than the typical biconcave disc shape due to RBCmembrane defects.

Genetic prevalence
Hereditary elliptocytosis has an autosomal pattern of inheritance.
Subtype of hereditary elliptocytosis called hereditary pyropoikilocytosis (HPP) which
is autosomal recessive.
.A clinically significant hemolytic anemia occurs only in 5-10% of sufferers

The following categorisation of the disorder demonstrates its heterogeneity
1. Common hereditary elliptocytosis (in approximate order severe to most
severe)
 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
hemolytic anemia
 With sporadic hemolysis - the individual has a predilection towards hemolysis in
the presence of particular comorbidities, including infections, and vitamin
B12 deficiency
 With neonatal poikilocytosis - during the first year of life only the individual has a
symptomatic hemolytic anemia with poikilocytosis
 With chronic hemolysis - the individual has a moderate to severe symptomatic
hemolytic anemia (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 hemolytic anemia and having a life-threatening hemolytic anemia
with symptoms mimicking those of HPP (see below)
 With pyropoikilocytosis (HPP) - the individual is typically of African descent and
has a life-threateningly severe hemolytic anemia 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)
2. 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 hemolytic anemia, and has increased resistance to malaria
3. Spherocytic elliptocytosis (hereditary hemolytic ovalocytosis) - the
individual is European descent and elliptocytes and spherocytes are
simultaneously present in


Pathophysiology

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Common hereditary elliptocytosis
A number of genes have been linked to common hereditary elliptocytosis (many involve
the same gene as forms of hereditary spherocytosis, or HS):


Treatment
The vast majority of those with hereditary elliptocytosis require no treatment
Folate helps to reduce the extent of hemolysis in those with significant hemolysis due to
hereditary elliptocytosis.

Signs and symptoms of their anemia. These can include:
 Vague, poorly localized abdominal pain
 Fatigue and dyspnea
 Growth failure
 Leg ulcers
 Gallstones.
.
Prognosis
Those with hereditary elliptocytosis have a good prognosis, only those with very severe
disease have a shortened life expectancy.