Spheroidal cell anemia
Astrid Leitner studied veterinary medicine in Vienna. After ten years in veterinary practice and the birth of her daughter, she switched - more by chance - to medical journalism. It quickly became clear that her interest in medical topics and her love of writing were the perfect combination for her. Astrid Leitner lives with daughter, dog and cat in Vienna and Upper Austria.
More about the experts All content is checked by medical journalists.Globular cell anemia is a congenital disease in which a defect in the red blood cells causes anemia. The disease is usually diagnosed as early as infancy or toddler age. Read here how the disease develops, how it is inherited and the symptoms it causes!
ICD codes for this disease: ICD codes are internationally recognized codes for medical diagnoses. They can be found, for example, in doctor's letters or on certificates of incapacity for work. D58
Brief overview
- Description: Globular cell anemia is a congenital disease that usually leads to anemia in infancy or early childhood.
Causes: Changes in genes that cause defects in red blood cells - Symptoms: paleness, tiredness, anemia, jaundice, enlarged spleen, gallstones
- Diagnosis: physical examination, positive family history, blood test, ultrasound
- When to the doctor ?: Suddenly paleness, increasing tiredness in connection with febrile infections, headache or abdominal pain
- Treatment: blood transfusions, removal of the spleen, removal of the gallbladder
- Prevention: Since it is a congenital genetic change, no prevention is possible.
- Prognosis: With early detection and treatment of spheroid cell anemia, the prognosis is very good and those affected have a normal life expectancy.
What is spheroidal cell anemia?
Spherical cell anemia (hereditary spherocytosis) is a genetic, congenital disease that causes changes in red blood cells. It belongs to the group of hemolytic anemia. This means anemia, which is caused by an increased or premature breakdown of red blood cells (hemolysis). Ball cell anemia is not contagious and it is not acquired at any time.
Red blood cells (erythrocytes) are made in the bone marrow and then enter the bloodstream. Among other things, they are responsible for the transport of oxygen in the body and have a typical shape: under the microscope they appear as round disks that are slightly dented in the middle on both sides, which is visible under the microscope as "brightening".
In spherical cell anemia, the erythrocytes are deformed due to a genetic change. Instead of the normal disc shape, they become spherical (spheroid), which gives the disease its name (hereditary spherocytosis). Since the spherical erythrocytes are smaller than healthy ones, doctors also refer to them as microspherocytes.
The spleen is part of the immune system and is responsible, among other things, for breaking down old and defective erythrocytes. In spherical cell anemia, the spleen recognizes the changed red blood cells as foreign, filters them prematurely from the bloodstream and breaks them down. Due to the massive breakdown of the changed blood cells, those affected eventually develop anemia. Depending on how the deficiency of red blood cells affects the body, there are four degrees of severity of spheroidal cell anemia: mild, moderate, severe and very severe.
frequency
Globular cell anemia is by far the most common congenital hemolytic anemia, but it is one of the rare diseases overall: It affects about one in 5,000 people in Central Europe.
Ball cell anemia and the desire to have children
Human genetic counseling is recommended for people who want to have children and who have the genetic change in them or who have globular cell anemia. A blood test is used to assess how high the risk is of passing the disease on to your offspring.
With autosomal dominant inherited spheroidal cell anemia, the probability that the disease will be passed on to the child is 50 percent, with autosomal recessive 25 percent. But it is also possible to have a perfectly healthy child.
How does spheroid cell anemia develop?
The cause of spheroid cell anemia are congenital genetic changes. They cause the "covering" of the red blood cells (erythrocyte membrane) to become unstable. The “envelope” becomes more permeable because certain components of the membrane are missing or no longer functional. Water and salts (especially sodium) can flow in more easily and bloat the red blood cells. This changes them: They lose their natural disc shape and become spherical.
The genes for the membrane proteins "ankyrin", "band 3 protein" and "spectrin" are most frequently affected; changes in the genes of "protein 4.2" and "Rh complex" are less common.
How is spheroidal cell anemia inherited?
In 75 percent of all those affected, the disease is inherited as an autosomal dominant trait. This means that the disease is passed on to the child even if only one parent carries the genetic change. The changed genome prevails, is therefore dominant - the disease breaks out.
In the remaining 25 percent, it is either inherited as an autosomal recessive trait or occurs again (spontaneous mutation). Autosomal recessive inheritance means that the child will only develop the disease if they have inherited the genetic modification from both parents. In the case of a spontaneous mutation, both parents are healthy; the genetic change occurs spontaneously in the child during embryonic development. How this comes about is unknown.
There are also so-called “carriers”: those affected carry modified genes without becoming ill themselves. Nevertheless, they can pass the disease on to their offspring.
Symptoms
The symptoms of globular cell anemia depend on the severity of the disease and its course. The symptoms vary from patient to patient. Some people are completely symptom-free and only diagnosed by chance; others have severe symptoms even in childhood.
Typical symptoms of spheroidal cell anemia
Anemia: If the spleen breaks down too many blood cells, the blood will lack them, leading to anemia. Since erythrocytes are responsible for transporting oxygen, the body is no longer adequately supplied with oxygen. As a result, those affected develop unspecific symptoms such as paleness, tiredness, loss of performance and headaches.
Jaundice (jaundice): The excessive breakdown of red blood cells leads to increased breakdown products such as bilirubin. Bilirubin causes typical symptoms of jaundice, such as yellowing of the skin and eyes. It is formed when the red blood pigment hemoglobin is broken down with the erythrocytes. This is usually responsible for the transport of oxygen and carbon dioxide.
Enlargement of the spleen (splenomegaly): In spherical cell anemia, the spleen is increasingly busy breaking down the defective blood cells and thereby enlarging. Enlargement of the spleen may be manifested by pain in the left upper abdomen.If it becomes very large, it can even tear. Those affected are therefore advised to refrain from sports that can involve blows to the stomach. These include, for example, martial arts or ball sports.
Gallstones (cholelithiasis): The breakdown products of the red blood cells can clump together in the gallbladder and form gallstones, which in turn irritate and / or block the gallbladder or bile duct. Then severe pain in the upper abdomen is typical. If inflammation develops as well, fever and chills develop.
Possible complications of spheroidal cell anemia
Aplastic crisis: In an aplastic crisis, the bone marrow temporarily stops producing red blood cells. However, as the spleen continues to break down the defective blood cells, there is suddenly a sharp decrease in the number of erythrocytes. The body is no longer adequately supplied with oxygen. Those affected almost always need a blood transfusion.
In patients with globular cell anemia, the aplastic crisis is often triggered by an infection with rubella (parvovirus B19). Those affected usually get infected in childhood. Once infected, they are usually immune for life.
Rubella is easily overlooked in children with spheroidal cell anemia because they lack the typical rubella symptoms such as the butterfly-shaped rash on the cheeks and the garland-shaped rash on the arms, legs and trunk!
Hemolytic crisis: During the hemolytic crisis, a large number of red blood cells suddenly break down. This is the case, for example, when those affected become infected with certain viruses. Typical symptoms of a hemolytic crisis are fever, chills, headache, stomach and back pain, jaundice, and brown urine. In young adults, the course is usually milder than in babies and children, but the hemolytic crisis is a medical emergency for them too. All patients need a blood transfusion immediately.
If you suspect a hemolytic crisis, call the emergency doctor immediately!
diagnosis
The first indications of spheroid cell anemia often appear as early as infancy or toddler age. In mild cases it is possible that the suspicion of the disease only emerges accidentally in the course of a blood test.
The diagnosis is usually made by a specialist in blood disorders in children and adolescents (pediatric hematologist). The doctor will carry out several examinations for this, as there is not one test that can be used to clearly diagnose spheroidal cell anemia.
The diagnosis includes:
Medical history (anamnesis): In the initial consultation, the doctor asks about the course of the disease and the current symptoms. If there are already cases of globular cell anemia in the family (positive family history), this is the first indication of the disease.
Physical examination: The doctor then examines the patient, paying particular attention to typical symptoms of globular cell anemia such as paleness, pain in the abdomen and jaundice.
Blood test: If the suspicion of spheroid cell anemia is confirmed, the doctor will take blood from the patient. Usually several blood values are changed. The typical small spherical cells in the blood smear are particularly noticeable. The doctor recognizes these under the microscope by their characteristic appearance (small, dark red erythrocytes with a lack of central illumination).
Ball cells are also found in people who do not have ball cell anemia. Sometimes they are found temporarily in the blood after burns, certain infections, or after a snakebite.
Ultrasound examination: an enlargement of the spleen or gallstones can be proven beyond doubt by the doctor by means of an ultrasound examination.
When to the doctor
Globular cell anemia is usually diagnosed as early as infancy or toddler age. A doctor's visit is necessary if those affected develop symptoms such as suddenly paleness, increasing tiredness, febrile infections, headaches or abdominal pain.
treatment
Since spheroid cell anemia is caused by a genetic change, there is no treatment that can cure the disease. The main aim of the therapy is to alleviate the symptoms and prevent complications. In most cases, spheroid cell anemia can be treated well, so that those affected have a normal life expectancy.
Blood transfusions: With blood transfusions, the patient receives red blood cells (packed red blood cells) from a healthy donor. A blood transfusion is particularly necessary for children in the first and second year of life with a moderate course, as the formation of red blood cells is delayed in them. After the age of two, doctors use blood transfusions primarily to treat a hemolytic or aplastic crisis.
Removal of the spleen (splenectomy): Removing the spleen causes the changed blood cells to break down more slowly and consequently to survive longer. This will prevent anemia from occurring.
Since the spleen is important for the defense against pathogens, it is not completely removed, a small part is retained. As part of the immune system, the remaining spleen can continue to produce defense cells (antibodies) against certain pathogens.
If the course is severe or very severe, the spleen is removed before starting school. With moderate progress between the ages of seven and ten.
Removal of the gallbladder (cholecystectomy): Patients who develop gallstones as the disease progresses may need to remove the gallbladder.
IMPORTANT: Not all of the forms of treatment mentioned are necessary for every patient. Which therapy is used always depends on the individual course of the disease!
After removal of the spleen
Since the spleen is an important part of the immune system, once it is removed, the risk of infection increases. The same applies to blood clots (thrombosis), strokes and heart attacks.
To prevent the consequences of removing a spleen, doctors give the following recommendations:
Antibiotic: Patients who have had their spleen removed are usually given an antibiotic before and repeatedly after the procedure to prevent serious infections with bacterial pathogens.
Vaccinations: Children with spheroidal cell anemia who have had their spleen removed are vaccinated according to current recommendations, as are healthy children. It is particularly important that those affected are protected against pathogens such as pneumococci (pneumonia), meningococci (meningitis) and Haemophilus influenzae type b (meningitis, epiglottis).
Regular check-ups with a doctor: Patients who have had their spleen removed are advised to have regular check-ups.
Healthy and balanced diet: In addition, those affected should ensure that they consume sufficient folic acid and vitamin B12.
forecast
With early detection and treatment of spheroid cell anemia, the prognosis is very good and those affected usually have a normal life expectancy.
Prevent
Since spheroid cell anemia is genetic, there are no measures to prevent the disease. Parents who are carriers of the genetic changes or who themselves suffer from spheroid cell anemia can seek human genetic advice. After a blood test of the parents, the human geneticist estimates how high the risk is of passing the disease on to the child.
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