[MIM 130 600, 235 370, 611 804]

Rare hematologic disorder due to abnormalities of the cytoskeleton of red blood cells that take an  elliptical shape. More common in the African population (incidence around 1/100 births in some countries) as elliptical red blood cells are more resistant to infection by the plasmodium; among Caucasians: incidence of 1/5000 births. Autosomal dominant transmission of a mutation of  SPTA1 genes (1q23.1) coding for the spectrines α or ß, proteins constituting the cytoskeleton of red blood cells. The Melanesian (or southeast elliptocytosis) elliptocytosis, also called ovalocytosis [MIM 166 900] is characterized by an autosomal recessive transmission.

The qualitative deficit causes alterations in the linkage the chains of spectrin and a decrease of the mechanical stability of the cytoskeleton. Some forms are due to mutation of the EPB41 gene (1p35.3), that codes for protein 4.1.R (glycophorin C): in those cases, protein 4.1 is found in reduced quantity, and this destabilizes the molecular complex linking the spectrines to the membrane of the red cell. The great clinical heterogeneity among individuals with the same mutation of spectrin might be related to modifying alleles as a LELY (Low Expression allele from Lyon).  The aLELY polymorphism is generally completely asymptomatic, but in case of  association with a mutation in the spectrin α-gene, mutated forms of α spectrine are responsible for the  HPP phenotype (hereditary pyropoikilocytose) [MIM 266 140]. In the population of African origin, elliptocytosis relates mainly to an anomaly of spectrin (rather severe hemolysis) and while in Caucasians it is primarily related to a protein 4.1 deficiency (little or no hemolysis).

Clinical manifestations are variable: the condition is most often asymptomatic but can cause a hemolytic anemia (severe in homozygous forms) .

In adults: ± 90% of cases: status of asymptomatic carrier, discovery hazard at the time of a  blood smear analysis. In the other 10% of cases: moderate hemolysis with slightly diminished or normal hemoglobin level and hyperreticulocytosis; splenomegaly is sometimes described.

In newborns and infants: hereditary elliptocytosis with temporary infantile poikilocytosis (or infantile pycnocytosis. Hemolysis is present at birth with hyperbilirubinemia and a risk of nuclear jaundice. Need for blood transfusions followed around 6-12 months with a moderate phenotype of elliptocytosis.

Diagnosis is based on blood smear examination that contains more than 15% of elliptocytes or ovalocytes (elliptical red cells). These red blood cells are more sensitive to heat than normal red blood cells.

Splenectomy is necessary in severe forms. Risk of sickle cell crises in case of association with a sickle cell trait .

Anesthetic implications:

none except in severe forms with hemolysis that necessitates to check total blood count. Sometimes post-splenectomy status.

References:        

-        Da Costa L, Galimand J, Fenneteau O, Mohandas N.
Hereditary spherocytosis, elliptocytosis, and other red cell membrane disorders.
Blood Reviews 2013; 27: 167-78

-        Nivaggioni V, Léonnet C, Ebbo M, Grados A et al.
Infarctus mésentériques multiples chez un patient malgache porteur d’une ovalocytose mélanésienne et d’une drépanocytose hétérozygote.
Hématologie 2016 ; 22 : 284-7

Updated: February 2017