Globular cell anemia is a genetic disorder with anemia as its leading symptom. The anemia is due to the decreased lifespan of red blood cells, which is caused by defects in the erythrocyte membrane. Therapy consists of removal of the spleen.
What is spherocytosis?
Hemolytic anemias are types of anemia in which the lifespan of red blood cells is greatly reduced. A hemolytic anemia is also spherocytic anemia. The condition is also called hereditary spherocytosis, which means it is a genetic anemia caused by a structural defect in the red blood cells. 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 is probably much higher. In most cases, spherocytic anemia is inherited. In some cases, however, it also corresponds to a sporadically occurring new mutation of certain genes. Sickle cell anemia, which belongs to the hemoglobinopathies and is caused by the formation of abnormal hemoglobin, must be distinguished from spherocythemia. Like sickle cell anemia, spherocytic cell anemia belongs to the corpuscular hemolytic anemias. These forms of anemia are predominantly caused by genetic defects of a red cell component. In spherical cell anemia, the defect is in the spectrin or ankyrin of the cytoskeleton.
Causes
An autosomal recessive and an autosomal dominant form exist of spherocytic cell anemia. In autosomal recessive inheritance, the causative defect relates to the membrane protein spectrin. In the autosomal-dominant mode of inheritance, on the other hand, the defect is in the membrane protein ankyrin. The proteins mentioned are among the main components of erythrocytes and accordingly participate in the structure of the cytoskeleton, where they regulate permeability in particular. Due to the hereditary membrane defect, red blood cells lose their originally intended shape. Their flat biconcave shape becomes a spherical shape with low surface tension. This reduces the deformability of the microspherocytes, which is a critical component of blood viscosity. The defects of the membrane also cause increased membrane permeability. This results in increased turnover of glycolysis and ATP. As a result of the changes, the lifespan of the microspherocytes is significantly reduced as they succumb to increased phagocytosis within the spleen. The most common form of spherocytic anemia has as its cause a genetic mutation on chromosome 8 that occurs either as part of inheritance or as a new mutation.
Symptoms, complaints, and signs
Spherocytic anemia is composed of a number of clinically characteristic symptoms. The spherocytes become metabolically pre-damaged as soon as they pass through the spleen. Thus, there is a partial or holistic lysis of the cells. The spleen of the patient is usually severely swollen. The picture corresponds to splenomegaly. During the liver passage of the cells, increased bilirubin is produced. Therefore, during the breakdown of the blood cell, the excretory system overloads and causes jaundice to develop. The more severe the disease, the greater the anemia and accompanying jaundice. Patients often also suffer from gallstones due to an excess of bile pigment. Iron is increasingly metabolized in the course of erythrocyte degradation and, in the further course, can result in iron storage in the liver, which is often accompanied by cirrhotic tissue remodeling. Anemia in patients is typically associated with fatigue, fatigue states, poor performance and pallor or headache. In addition, respiratory distress, difficulty concentrating, or severe palpitations may occur. In the case of an early onset of the disease, mental and physical developmental disorders may also develop in the course of the disease. Hemolytic crises in the context of certain infections can be life-threatening for patients with spherocytic cell anemia because the replication of erythrocytes in the bone marrow is severely reduced. Hemolytic crises manifest primarily as fever, chills, circulatory collapse, and pain.
Diagnosis and course of the disease
The physician makes the diagnosis of spherocytic cell anemia with the aid of laboratory tests. The blood count shows normochromic anemia and hemolysis signs such as hyperbilirubinemia or decreased 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 centrally because of their spherical shape. When the physician tests hemolysis behavior using solutions with decreasing osmolarity, the pathological erythrocytes show decreased osmotic resistance. The prognosis for patients with spherocytic cell anemia is relatively favorable because promising treatment modalities are now available.
Complications
In most cases, spherocytic cell anemia results in damage and discomfort to the spleen. In this case, the spleen is significantly swollen and enlarged in the patient, and it is not uncommon for it to hurt. Likewise, symptoms of the liver can lead to jaundice in the patient. Furthermore, gallstones also occur, which lead to extremely strong and unpleasant pain in the patient. Patients feel tired and weary and can no longer actively participate in everyday life. The patient’s ability to cope with stress also decreases considerably as a result of spherocytosis. Furthermore, there are also disturbances in concentration and relatively severe headaches. The heart rate is increased, so that it is not uncommon to experience palpitations. Similarly, spherocytosis can lead to developmental disorders in children. Those affected also suffer from chills and fever, and circulatory collapse may occur, during which patients lose consciousness. In the process, injuries can possibly occur as a result of a fall. In the worst case, spherocytosis leads to the failure of various organs and thus to death. Treatment is carried out with the help of medication. However, the further course of the disease depends greatly on the cause of the spherocytosis.
When should you see a doctor?
Globular cell anemia does not necessarily require treatment. Only when a hemolytic crisis occurs is specialist diagnosis and treatment necessary. If uncharacteristic symptoms suggestive of anemia occur, a physician must be consulted within the next one to two weeks. If shortness of breath, dizziness or palpitations occur even during light physical exertion, it is best to consult a physician within the same week. Globular cell anemia is a hereditary disease that progresses rapidly. If treatment is started early, long-term mental and physical consequences can be avoided. In the absence of treatment, the disease leads to circulatory problems, developmental problems and, in the worst case, death. Certain infections can also cause a hemolytic crisis, which can be life-threatening. For this reason, a doctor’s office should be consulted even if there is a suspicion. If complications arise, first responders must call in the civilian ambulance service. Accompanying first aid measures are to be carried out. Further treatment is carried out by the family doctor, an internist or the cardiologist, depending on the manifestation and form of the signs of the disease.
Treatment and therapy
Globular cell anemia does not require therapeutic steps in all cases. Therapy is not mandatory as long as no hemolytic crisis occurs. If the hemolytic episodes recur, splenectomy may occur. This procedure is equivalent to a surgical procedure to remove the spleen. After splenectomy, the average red cell life usually normalizes. Surgical intervention to remove the spleen should not be performed on children less than six years of age. These children are at high risk for OPSI syndrome, which is a known complication of splenectomy. The complication is a severely septic condition that can lead to multiorgan failure and comatose states, making it fatal in extreme cases. Minimizing this risk of complications requires prior vaccination against diseases such as pneumococcus, Haemophilus influenzae type B, and meningococcus. In extreme cases, children under the age of six may still be operated on, but only a partial removal of the spleen should be attempted. Before removing a patient’s spleen, the physician should also rule out the presence of a secondary spleen. If a collateral spleen is present and is not removed with the splenectomy, the patient’s clinical symptoms will persist.
Outlook and prognosis
If treatment is sought, there is usually relief from the health irregularities that have occurred. Overall, the prognosis of the disease can be described as good. There are various therapeutic approaches that physicians can use depending on individual circumstances. In addition, intensive and extensive treatment does not have to be initiated in all cases. As a result, some patients diagnosed with spherocytic cell anemia do not require further medical intervention. For them, there is the possibility of coping with everyday life with the disease without any problems for the rest of their lives. However, the likelihood of an increase in problems and symptoms that have occurred is increased without medical monitoring medical care. Therefore, it is important for a good prognosis that the patient sees a doctor regularly. This is the only way to react to changes in time. In particularly severe cases, the spleen is removed from the affected person. If no complications arise during the surgical procedure, the patient can normally be discharged from treatment as recovered after the wound and healing process has been completed. However, surgery is usually not performed on patients under the age of six. Here, the state of health improves only by taking medication. Only when the minimum age it reached, the removal of the spleen can be performed.
Prevention
Spherocytic cell anemia cannot be prevented in a strict sense, since it is a genetic disease.
Follow-up care
In most cases, those affected by spherocytic cell anemia have no or very few aftercare measures available to them, and in most cases these are very limited. First and foremost, a comprehensive diagnosis and treatment must be provided to prevent further complications or other medical conditions from occurring. In some cases, there may not be a complete recovery. Most sufferers of spherocytic cell anemia rely on various surgical procedures to alleviate the symptoms. At the same time, the affected person should rest and maintain bed rest after such a procedure. In any case, strenuous or stressful activities should be avoided in order not to put unnecessary strain on the body. Likewise, many sufferers need help and support from their own family, and psychological support is also necessary in many cases. After the removal of the spleen, the affected person should pay attention to a healthy lifestyle with a healthy diet. In this regard, a diet plan can also be prepared by the doctor. In many cases, contact with other patients of spherocytic cell anemia can also be useful, as this can lead to an exchange of information.
What you can do yourself
Patients with spherocythemia are severely limited in their daily lives by the symptoms of the disease that occur. Because those with the disease are often children, appropriate treatment of the symptoms is the responsibility of the parents. Fatigue and reduced performance limit the well-being of patients and often interfere with gainful employment or school attendance, so that urgent action is required. Regular check-ups with a doctor are essential to monitor the course of the disease. Surgical measures are not necessary in every case. In some cases, symptoms such as headaches and palpitations can be treated with medication, with patients strictly following the dosage instructions given by the specialist. Since the disease is sometimes accompanied by a hemolytic crisis, which poses an acute threat to the life of the affected person, the social environment must be informed of the presence and nature of the disease. Thus, in an emergency, it is ensured that the patient receives adequate first aid measures and receives rapid emergency medical treatment. In severe cases, removal of the spleen is required, with physicians removing the organ during an inpatient stay. Patients are still physically impaired for some time after surgery and avoid strenuous physical activity.
