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Congenital spherocytosis (congenital microsphericytosis, Minkowski-Chauffard disease, congenital hemolytic jaundice) is the most commonly diagnosed congenital anemia, i.e. haemolytic anemia. In a patient with spherocytosis, red blood cells (erythrocytes) are spherical, while their normal shape should be concave (biconcave). The wrong shape of the red blood cells means that they are destroyed in the spleen and the patient develops anemia. In northern Europe and North America, hereditary spherocytosis (haemolytic anemia) is the most commonly diagnosed type of anemia. Spherocytosis is most often a hereditary genetic disease, but there are rare cases of acquired spherocytosis.
Spherocytosis – symptoms
Spherocytosis may be asymptomatic for a while – this is the case of mild anemia. Most often a mild form spherocytosis it is detected accidentally during preventive examinations.
As the breakdown of abnormal red blood cells in the spleen increases, discomfort such as weakness, difficulty concentrating, dizziness and increased heart rate may develop.
Moderate form of spherocytosis symptoms include jaundice, dark urine, and enlargement of the spleen and liver. There is also gallstone disease. These symptoms are most often visible in early childhood.
Severe form of spherocytosis are severe jaundice and severe pain in the area of the gallbladder. In children with severe form of spherocytosis a so-called gothic palate develops (the palate is highly arched) and a tower-shaped skull. They also have a wide base of the nose and a defective structure of the eyes (the eyeballs are set wide apart) and the organ of hearing. In people with severe form of spherocytosis Brachydactyly may also appear, which is shortening of the fingers or toes. Patients of severe form of spherocytosis have malocclusion, their heart beats at an accelerated pace, they experience problems with concentration, dizziness and headaches, fainting and mood changes, pale skin, general weakness and poor physical and mental performance.
Spherocytosis can consequently lead to the so-called hemolytic crisis, that is, to the rapid breakdown of large numbers of red blood cells, resulting in symptoms such as high fever, chills and fainting. Complications hemolytic crisis are leg ulcers and cardiomyopathy.
Patients with congenital spherocytosis have yellowing of the whites of the eyes and skin, sometimes accompanied by an enlarged spleen. Blood tests show high bilirubin levels and low hemoglobin levels, and low red blood cells (erythrocytes).
How is spherocytosis diagnosed?
A test that allows you to diagnose spherocytosis is the EMA test, or screening cytometric test. It allows the detection and assessment of abnormalities in the proteins of red blood cells membranes.
Additional examinations ordered in case of suspicion spherocytosis These include chest X-ray, abdominal ultrasound and computed tomography.
Spherocytosis – causes
The direct cause of congenital spherocytosis there is a lack of proteins that keep the red blood cells in shape. Spherical (abnormal) red blood cells are destroyed in the spleen. Thus, red blood cells with a spherical shape live much shorter than those with a normal shape (correctly developed erythrocytes live 100-120 days).
Conditions spherocytosis most often they are genetic – if one of the parents suffers from haemolytic anemia, the child is very likely to be sick as well. 75% of the time spherocytosis it is inherited autosomal dominantly, which means that it is enough to inherit only one defective gene for the disease to develop. In a few cases spherocytosis develops in people who have not inherited the dominant or recessive gene from their parents (it is then said that the mutation arises de novo – that is, again, from the beginning). This is the so-called Acquired spherocytosis. The causes of its appearance are most often autoimmune diseases, having an artificial heart valve that destroys red blood cells, abnormal functioning of the spleen, and the use of certain medications. Acquired spherocytosis it is often an additional symptom of autoimmune haemolytic anemia, in which the patient’s immune system attacks its own red blood cells, producing antibodies against them and destroying them.
Methods of treating congenital spherocytosis
Congenital spherocytosis is a genetically determined disease, so its treatment may only be symptomatic. In the treatment of spherocytosis drugs are administered – androgens, glucocorticosteroids and erythropoietin. Patients with spherocytosis also administered (transfused) concentrates of red blood cells (of a normal structure). In severe cases spherocytosis the spleen is removed surgically.
Treatment of spherocytosis is conducted by a hematologist.