Hereditary elliptocytosis

Other names:Elliptocytosis - hereditary

Hereditary elliptocytosis (HE) refers to a group of inherited blood conditions where the red blood cells are abnormally shaped.

Epidemiology

Elliptocytosis affects about 1 in every 2,500 people of northern European heritage. It is more common in people of African and Mediterranean descent. You are more likely to develop this condition if someone in your family has had it.

Cause

Hereditary elliptocytosis is caused by a genetic change in either the EPB41, SPTA1, or SPTB gene. Hereditary pyropoikilocytosis, a related condition, is caused by two mutations in these genes.

Inheritance

Autosomal dominant pattern, a 50/50 chance.

It is inherited in an autosomal dominant pattern. Hereditary pyropoikilocytosis is a related condition with more serious symptoms, and is inherited in an autosomal recessive pattern.

Symptoms

The symptoms of hereditary elliptocytosis may be different from person to person. Symptoms may appear at any age. Many people who have this condition have no symptoms at all. Most people with this condition have mild symptoms , while a few have more serious symptoms. Not everyone with hereditary elliptocytosis will have the same symptoms. The most common signs and symptoms of hereditary elliptocytosis are:

• Anemia
• fatigue
• shortness of breath
• Gallstones
• Yellowing of the skin and eyes (jaundice)
• Enlarged spleen (splenomegaly)
• Very low blood levels after an infection (aplastic crisis)

Hydrops fetalis, an abnormal buildup of fluids in the body of a fetus, has been reported, as well as more serious anemia in early childhood

For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed.

30%-79% of people have these symptoms

• Elliptocytosis
• Increased red cell osmotic fragility

5%-29% of people have these symptoms

• Congenital hemolytic anemia
• Neonatal hyperbilirubinemia
• Prolonged neonatal jaundice(Prolonged yellowing of skin in newborn)
• Reticulocytosis(Increased immature red blood cells)
• Splenomegaly(Increased spleen size)
• Stomatocytosis

1%-4% of people have these symptoms

• Abdominal pain(Pain in stomach)
• Chills
• Cholelithiasis(Gallstones)
• Fever
• Frontal bossing
• Hydrops fetalis
• Postnatal growth retardation(Growth delay as children)

Diagnosis

An exam by your health care provider may show an enlarged spleen. The following test results may help diagnose the condition:

• Bilirubin level may be high.
• Blood smear may show elliptical red blood cells.
• Complete blood count (CBC) may show anemia or signs of red blood cell destruction.
• Lactate dehydrogenase level may be high.
• Imaging of the gallbladder may show gallstones.

Treatment

Treatment for hereditary elliptocytosis is often not necessary. When symptoms are severe enough, some people with this condition will be treated with transfusion or even removal of the spleen (splenectomy). Surgery to remove the spleen may decrease the rate of red blood cell damage.

Prognosis

Hereditary elliptocytosis is generally mild and very rarely life threatening.

NIH genetic and rare disease info

• NIH info on Hereditary elliptocytosis

Hereditary elliptocytosis is a rare disease.

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