Hereditary elliptocytosis is a rare hereditary congenital disease in which the shape of red blood cell is abnormal. The shape is abnormally oval. It is caused by loss of gene due to mutation on chromosome 17. Family history of this condition is prominent risk factor for its development.
Patients suffering from hereditary elliptocytosis may not have any symptoms or may present with anaemia, tiredness, jaundice.The signs and symptoms depend on the severity of this condition. The condition is diagnosed with clinical examination and laboratory blood tests.
Usually for mild variety treatment is not required. However, if there is severe anaemia, surgery to remove spleen may be necessary to reduce the damage to the red blood cells.
What Is The Cause Hereditary Elliptocytosis?
Hereditary elliptocytosis is a congenital genetic disease of red blood cells.In this disease the red blood cells are abnormally oval instead of circular shape. The disease results due to deletion of gene on chromosome 17. Mutation in this gene can cause severe changes in proteins that are used for various chemical and biological changes in red blood cell.
The condition follows through generations in a family as it is hereditary. Hereditary elliptocytosis is present since birth. Males as well as females are equally affected by this disease. This condition is rare and is seen more in people of South East Asia, Africa and Mediterranean region.
Signs And Symptoms Of Hereditary Elliptocytosis
The signs and symptoms of hereditary elliptocytosis may depend on how severe the disease is. Individuals with mild form of disease may not develop any symptoms. Some people may not even know if this disease is present in them.
If the condition is severe patient may present with following symptoms:
- New born and infants may have anaemia and jaundice.
- Due to anaemia the child may appear extremely pale, tired with increased heart rate, palpitation, breathing difficulty, and dizziness.
- Due to jaundice there is yellow discoloration of skin, eyes and nails.
- On palpation of abdomen, the spleen is enlarged in size.
The above mentioned may continue for long time in infant. But gradually, as the child becomes adult the symptom start declining in their severity.
Complications And Treatment Of Hereditary Elliptocytosis
Following are the complications that an individual may suffer from hereditary elliptocytosis.
- Damage to kidneys.
- Frequent formation of gall stones.
- If there is accompanied deficiency of vitamin B12, iron and folic acid the condition can worsen
- The child may have retarded height.
- In case of surgical removal of spleen, there may be formation blood clot in vein, infection etc.
Hereditary elliptocytosis is not a curable condition. In majority of cases treatment is not needed as the symptoms are mild or may be absent altogether. Such patients come to know of their disease only when the abnormality in blood is found while doing the test for some other problem.
In severe form of disease where the spleen has become enlarged, splenectomy is performed. It is surgical removal of spleen. Some individuals may suffer from iron deficiency and vitamin deficiencies due to hereditary elliptocytosis. In such case iron and vitamin b12 is given in supplement form.
Patient is also advised to eat foods that are rich in iron, vitamin b12 and folic acid to prevent deficiency of this minerals and vitamins.