Kugelzellanemia is a genetic disease with the main symptom being anemia . The anemia is due to the reduced lifespan of red blood cells due to defects in the erythrocyte membrane. Treatment consists of removing the spleen.
What is globule cell anemia?
Due to the hereditary membrane defect, the red blood cells lose their originally intended shape. Their flat biconcave shape becomes spherical with low surface tension. See AbbreviationFinder for abbreviations related to Globule Cell Anemia.
Hemolytic anemias are types of anemia in which the lifespan of red blood cells is greatly reduced. Spherical cell anemia is also a hemolytic anemia. The disease is also called hereditary spherocytosis and is therefore a genetic anemia based on a structural defect in the erythrocytes.
This form of anemia is the most common anemic disease in Central Europe. The prevalence is given as one affected person in 2000 and is correspondingly high. According to experts, the number of unreported cases of the disease is probably much higher. In most cases, spherical cell anemia is inherited. In some cases, however, it also corresponds to a sporadically occurring new mutation of certain genes.
Sickle cell anemia, which is one of the hemoglobinopathies and is caused by the formation of abnormal hemoglobin, must be distinguished from spherical cell anemia. Like sickle cell anemia, globule cell anemia is one of the corpuscular hemolytic anemias. These forms of anemia are mainly based on genetic defects in an erythrocyte component. In globule cell anemia, the defect is in the spectrin or ankyrin of the cytoskeleton.
There is an autosomal recessive and an autosomal dominant form of globule cell anemia. In autosomal recessive inheritance, the causative defect relates to the membrane protein spectrin. In the case of autosomal dominant inheritance, however, the defect lies in the membrane protein ankyrin. The proteins mentioned are among the main components of erythrocytes and accordingly participate in the construction of the cytoskeleton, where they regulate permeability in particular.
Due to the hereditary membrane defect, the red blood cells lose their originally intended shape. Their flat biconcave shape becomes spherical with low surface tension. This reduces the deformability of the microspherocytes, which is a crucial component of blood viscosity. The defects in the membrane also cause increased membrane permeability. This results in an increased turnover of glycolysis and ATP.
Due to the changes, the lifespan of the microspherocytes is significantly reduced, since they succumb to increased phagocytosis within the spleen. The most common form of globule cell anemia is caused by a genetic mutation on chromosome 8, either inherited or as a new mutation.
Symptoms, Ailments & Signs
Spherical cell anemia consists of a number of clinically characteristic symptoms. The spherocytes are already metabolically damaged when they pass through the spleen. There is a partial or total lysis of the cells. The patient’s spleen is usually severely swollen. The picture corresponds to splenomegaly. Bilirubin accumulates during the liver passage of the cells.
When the blood cells are broken down, the excretory system is overloaded and jaundice develops. The greater the severity of the disease, the greater the anemia and accompanying jaundice. Patients often also suffer from gallstones, as there is an excess of bile pigment. Iron is increasingly converted as part of the breakdown of erythrocytes and can subsequently result in the storage of iron in the liver, which is often associated with cirrhotic remodeling of the tissue.
The anemia of the patients is typically associated with tiredness, exhaustion, poor performance and paleness or headaches. In addition, shortness of breath, difficulty concentrating or severe heart palpitations can occur. If the onset of the disease is early, mental and physical development disorders can also occur as part of the disease.
Hemolytic crises in the context of certain infections can be life-threatening for patients with globule cell anemia because the reproduction of erythrocytes in the bone marrow is severely reduced. Hemolytic crises manifest themselves primarily in fever, chills, circulatory collapse and pain.
Diagnosis & course of disease
The diagnosis of spherical cell anemia is made by the doctor with the help of laboratory tests. The blood count shows normochromic anemia and signs of hemolysis such as hyperbilirubinemia or reduced haptoglobin and increased LDH levels. The mean corpuscular concentration of hemolobin shows an increase. In addition, light microscopic examinations of the red blood cells can take place, in which the erythrocytes do not show any brightening in the center because of their spherical shape.
If the doctor tests the hemolysis behavior using solutions with decreasing osmolarity, the pathological erythrocytes show reduced osmotic resistance. The prognosis for patients with globule cell anemia is relatively favorable, since promising treatment options are now available.
In most cases, globule cell anemia causes damage and discomfort to the spleen. The spleen in the patient is clearly swollen and enlarged and is often painful. Likewise, liver problems can lead to jaundice in the patient. Gallstones also occur, which lead to extremely severe and uncomfortable pain in the patient.
The patients feel tired and exhausted and can no longer actively participate in everyday life. The resilience of those affected also decreases significantly as a result of spherical cell anemia. There are also disturbances in concentration and relatively severe headaches. The heart rate is increased, so that it is not uncommon for heart palpitations to occur. Spherical cell anemia can also lead to developmental disorders in children.
Those affected also suffer from chills and fever, which can lead to a circulatory collapse in which the patients lose consciousness. A fall may result in injury. In the worst case, globule cell anemia leads to the failure of various organs and thus to death. Treatment is with the help of drugs. However, the further course of the disease depends heavily on the cause of the globule cell anemia.
When should you go to the doctor?
The spherical cell anemia does not necessarily have to be treated. Only when a hemolytic crisis occurs is a specialist diagnosis and treatment required. If uncharacteristic symptoms occur that indicate anemia, a doctor must be consulted within the next one to two weeks. If you experience shortness of breath, dizziness or tachycardia even with light physical exertion, it is best to consult a doctor in the same week. Kugelzellanemia is an inherited disease that progresses rapidly.
If therapy is started early, long-term mental and physical consequences can be avoided. If left untreated, the disease leads to circulatory problems, developmental disorders and, in the worst case, death. Certain infections can also cause a hemolytic crisis, which can be life-threatening. Therefore, if you suspect it, you should go to a doctor’s office. If complications arise, the first responders must call in the civilian rescue service. Accompanying this, first-aid measures must be carried out. Further treatment is carried out by the family doctor, an internist or the cardiologist, depending on the severity and form of the symptoms.
Treatment & Therapy
Not in all cases, globule cell anemia requires therapeutic steps. Therapy is not absolutely necessary as long as no hemolytic crisis occurs. If the hemolytic flares recur, splenectomy can be done . This procedure corresponds to a surgical procedure to remove the spleen. After a splenectomy, the average life span of the erythrocytes usually returns to normal.
Surgical intervention to remove the spleen should not be performed on children younger than six years of age. These children are at high risk for OPSI syndrome, a known complication of splenectomy. The complication is a severe septic clinical picture that can lead to multi- organ failure and comatose states, and in extreme cases can be fatal.
Minimizing this risk of complications requires prior vaccination against diseases such as pneumococci, Haemophilus influenzae type B and meningococci. In extreme cases, children under the age of six can still be operated on, but only a partial removal of the spleen should be attempted.
In addition, before removing a patient’s spleen, the doctor should rule out the presence of an accessory spleen. If an accessory spleen is present and not removed at splenectomy, the patient’s clinical symptoms will persist.
Outlook & Forecast
If treatment is sought, the health irregularities that have occurred are usually alleviated. Overall, the prognosis of the disease can be described as good. There are various therapeutic approaches that doctors can use depending on the individual circumstances. In addition, intensive and comprehensive treatment does not have to be initiated in all cases. As a result, some patients with a diagnosed globule cell anemia do not require any further medical measures. They have the opportunity to cope with everyday life with the disease without any problems.
However, the probability of an increase in the problems and complaints that have arisen is increased without medical care being monitored by a doctor. It is therefore important for a good prognosis that the patient sees a doctor regularly. This is the only way to react to changes in good time.
In particularly severe cases, the affected person’s spleen is removed. If no complications occur during the surgical procedure, the patient can normally be discharged from the treatment as recovered after the wound and healing process is complete. In patients under the age of six, however, surgery is usually not performed. Here the state of health only improves by taking medication. Only when it reaches the minimum age can the removal of the spleen be performed.
Strictly speaking, spherical cell anemia cannot be prevented because it is a genetic disease.
In most cases, those affected by globule cell anemia have no or only very few follow-up measures available, although these are very limited in most cases. First and foremost, a comprehensive diagnosis and treatment must be carried out so that no further complications or other complaints can occur. In some cases, complete healing may not occur.
Most people affected by globule cell anemia are dependent on various surgical procedures that can relieve the symptoms. The person concerned should rest after such an operation and keep bed rest. In any case, strenuous or stressful activities should be avoided in order not to unnecessarily burden the body.
Many of those affected also need help and support from their own families, with psychological support being necessary in many cases. After the removal of the spleen, the affected person should ensure a healthy lifestyle with a healthy diet. A nutrition plan can also be drawn up by the doctor. In many cases, contact with other patients with spherical cell anemia can also be useful, as this can lead to an exchange of information.
You can do that yourself
Patients with spherical cell anemia are severely restricted in their daily lives due to the symptoms of the disease. Since the sick people are often children, it is the responsibility of the parents to treat the symptoms appropriately. Fatigue and reduced performance restrict the patient’s well-being and often interfere with gainful employment or school attendance, so that there is an urgent need for action.
Regular check-ups with the doctor are essential to monitor the course of the disease. Operational measures are not necessary in every case. Because complaints such as headaches and palpitations can sometimes be treated with drugs, whereby the patients strictly follow the dosage instructions given by the specialist.
Since the disease is sometimes accompanied by a hemolytic crisis, which poses an acute threat to the lives of those affected, the social environment must be informed about the existence and type of the disease. In an emergency, this ensures that the patient receives adequate first aid measures and that he/she quickly receives emergency medical treatment. In severe cases, the spleen may need to be removed, and doctors remove the organ during a hospital stay. For some time after the operation, the patients’ physical performance is still impaired and they avoid strenuous physical activities.