This hereditary disorder features a condition where the red blood cells are abnormally shaped, i.e. elliptical rather than the normal biconcave disc shape. Most of the individuals with hereditary elliptocytosis do not present any problems and generally do not know the presence of this disorder. This is usually a harmless condition while the mild cases may only present less than 15% of red blood cells in elliptical shape. However, complications can develop when the red blood cells rupture particularly during a viral infection. These affected cases are at the risk of developing anemia, jaundice and gallstones. Individuals who are planning for pregnancy with the prevalence of this condition in their family may benefit from genetic counseling. It is estimated that this disorder affects around 3.5 to 5 per 10,000 individuals, although the exact prevalence is not known.
Causes
This is inherited in an autosomal dominant pattern meaning one copy of the defective gene either from the mother or the father is sufficient to cause this disorder. The affected parents have a 50% chance of passing the defective gene to their child who can develop this condition.
This genetic disease is caused by the mutations in various proteins that are responsible for the stability of the red blood cell membrane. The defect in the proteins causes the production of the abnormal blood cells that are elliptocyte-shaped and hence known as elliptocytes. This is a rare condition with only a few families reported in Europe although it appears to be common in the populations of the black Africans and individuals of Mediterranean descent.
Symptoms
Most of the affected individuals exhibit very mild symptoms and are even asymptomatic in some of the cases which are usually identified on a blood smear examination. The haemolytic anemia among these affected individuals can range from mild to severe and in addition, can present jaundice and spleen enlargement (splenomegaly). This condition is normally evident during the neonatal period but can become mild after 4 months to 2 years of age.
Diagnosis
Some of the diagnostic tests can include a peripheral blood smear, complete blood count which can present varying degrees of anemia, lactate where the dehydrogenase level may be high and the ultrasound of the gallbladder that may determine the presence of gallstones.
Treatment
Most of the affected individual may not require any treatment as this condition can be asymptomatic. However, the supportive measure for the mild cases of haemolytic anemia can include the folate therapy and the most severe cases may require red cell transfusions particularly during pregnancy and infections. The surgical removal of the spleen is considered optional for the severe cases after 5 years of age.
References
http://www.mdedge.com/node/945/path_term/30#cont2
https://medlineplus.gov/ency/article/000563.htm
http://www.enerca.org/anaemias/57/hereditary-elliptocytosis