Thalassemia is a genetic blood disease with a malformation of the red blood pigment. The result is anemia (“anemia”), which must be treated for life. However, a bone marrow transplant can also help in the case of fully developed thalassemia symptoms.
What is thalassemia?
Thalassemia is an inherited form of anemia (“anaemia”). The disease is also called Mediterranean anemia after its geographical occurrence, but is also common in North and West Africa, the Middle East and South Asia. Leptocytosis is another term for thalassemia. For what does cd stand for, please visit ezhoushan.net.
The genetic deviation (mutation) affects the synthesis of the red blood pigment in the body. This “hemoglobin” is made up of 2 proteins, the alpha and beta chains. 2 alpha and 2 beta units form a hemoglobin unit, which carries the iron-containing heme group in the center and binds the oxygen.
Thalassemia means that the proteins in the hemoglobin are altered compared to the “norm”. This results in a reduced oxygen supply to the organism and a disturbed metabolism of the red blood cells (erythrocytes) in thalassemia.
Thalassemia is a collective term for a variety of mutations in the hemoglobin genes. There are 2 basic forms, which are differentiated based on the affected protein components:
1) Beta thalassemia: The genes of the hemoglobin beta chains are defective. Geneticists identified thousands of mutations, most of which are molecular defects in the DNA (hereditary molecule). In addition, chromosome breaks (deletions) are a cause of the clinical picture. The major form of thalassemia is the most severe form. This occurs when the “diseased” chromosome is contributed by both parents.
If only one parent’s chromosome is defective, the minor form develops (everyone has a double set of chromosomes because they received these cell nucleus organelles from their father and mother). In addition, intermediate forms of beta-thalassemia are realized, so the intermediate type is the moderate, the minor form the symptom-free variant.
2) Alpha thalassemia: The genes of the alpha chains of hemoglobin are defective. The gene is quadrupled, so the severity of alpha thalassemia depends on how many of the genes are defective.
By far the most common variant is the beta form, while the alpha type is a rare form of thalassemia.
Symptoms, Ailments & Signs
There are several forms of thalassemia. A distinction is made between thalassemia major, thalassemia intermedia and thalassemia minor. In the case of thalassemia major, symptoms of anemia (anemia) appear, in the most frequent cases already in the first year of life. These symptoms may include paleness, fatigue, poor drinking, or an accelerated heart rate ( tachycardia ).
In some cases, there is hemolysis, the breakdown of red blood cells, and enlargement of the liver and spleen. Other symptoms of thalassemia major are iron overload or failure to thrive, i.e. impaired overall physical development in the child. If left untreated, sequelae can result, such as bone deformities, which can be seen particularly on the face, infectious diseases, failure to thrive, or death.
The symptoms of thalassemia intermedia can be similar to those of thalassemia major. In addition, the following symptoms also appear: thrombosis, ulcers, gallstones, high blood pressure in the pulmonary vessels, tumors outside the bone marrow. Thalassemia intermedia can occur in both children and adults and is symptomatic in various forms.
If left untreated, the disease can develop like thalassemia major. Thalassemia minor shows mild or no symptoms of anemia, making it the mildest form. Iron deficiency can occur in some cases, clinically there is a normal life expectancy.
Diagnosis & History
The doctor first detects thalassemia with a microscopic examination of a blood sample. The erythrocytes are only slightly red in color and smaller than in healthy people, and the blood laboratory reveals that the hemoglobin concentration is too low.
With the method of gel electrophoresis, the components of hemoglobin are separated and identified. This is usually followed by lifelong therapy, because the liver and spleen are already enlarged in infants. In the course of thalassemia, adolescents suffer from a general failure to thrive with underdevelopment of the organs and malformations of the skeletal apparatus.
If left untreated, Mediterranean anemia can lead to severe cardiac insufficiency, hypofunction of the liver and diabetes at a young age. The side effects of therapy in the context of thalassemia also require treatment.
Thalassemia can have various complications. There is a risk of serious repercussions. One of the most common sequelae of thalassemia is iron overload. This means that there is an excess of iron in the body either due to the disease itself or a large number of blood transfusions as part of the treatment.
The excess of iron increases the risk of damage to the heart. The same applies to the liver and the endocrine system. It has glands that produce hormones that are important for the regulation of various body processes. Another possible consequence is splenomegaly. This leads to an enlargement of the spleen, which in turn increases the risk of a rupture of the spleen.
For this reason, a splenectomy was often performed in earlier years. If the spleen has to be removed, the affected people suffer more frequently from infections. Bone deformities are also a consequence of thalassemia. The bones are expanded due to disease, which in turn leads to defects in the bone structure. The bones of the face and skull are particularly affected. Because the bones also become thin and brittle, there is a risk of fractures even with minor injuries.
Other serious complications can be heart failure or liver failure. They are the result of hemosiderosis, which damages the heart muscles and liver tissue. Because the islet cells in the pancreas are also affected, there is a risk of diabetes mellitus (diabetes).
When should you go to the doctor?
In the case of thalassemia, a medical examination and treatment should always be carried out so that there are no further complications. A doctor should be consulted as soon as the first symptoms of this disease appear, so that no further symptoms arise. Early treatment always has a positive effect on the further course of the disease.
As a rule, a doctor should be consulted for thalassemia if the person concerned suffers from severe tiredness or severe paleness. These complaints cannot usually be compensated for with the help of sleep or rest, and they do not go away on their own. Furthermore, poor drinking can indicate thalassemia and should definitely be examined by a doctor. Not infrequently, those affected also show high blood pressure or suffer from a significant enlargement of the spleen and liver. If these symptoms occur, a doctor must be consulted in any case.
As a rule, thalassemia can be diagnosed by a general practitioner. Further treatment then depends on the underlying disease and is carried out by a specialist. The further course of the disease also depends heavily on the time of diagnosis.
Treatment & Therapy
Thalassemia must be treated in infancy, especially in the full-blown Major type. Those affected need monthly blood transfusions to compensate for the lack of effective hemoglobin.
However, the stored blood leads to an accumulation of iron that the body cannot eliminate completely. The deposition of the metal ions in various organs such as the heart, liver and pancreas can cause damage that must be avoided. Therefore, the patients are given medication that causes excess iron to be expelled.
Surgical removal of the spleen used to be part of the standard therapy for thalassemia. Today, this procedure is only used as a last resort because the resulting dysfunction of the immune system also affects the patient. Causal therapy offers the possibility of bone marrow transplantation.
The stem cells from the healthy person can then generate fully functional erythrocytes in the patient’s body. The partial or total immunity to malaria in people with the thalassemia syndrome is remarkable in terms of evolutionary biology.
As a genetic disease, thalassemia is very problematic in terms of prophylaxis. One way of avoiding Mediterranean anemia is to clarify a couple’s hereditary factors in advance of pregnancy. If the risk is too great, the desire to have children can be reconsidered. Although eugenic measures are carried out in some countries, many people face ethical problems in relation to the clinical picture of thalassemia due to the practice of abortion.
Affected people with the disease have to have their whole body examined once a year, since the absorption of excess iron can lead to permanent damage to the body. Those affected are recommended to join a self-help group on a permanent basis. Experiences and ways of dealing with the disease can be exchanged there. Those affected do not have to feel alone with the disease and can find out other opinions on how to live with the disease.
It is also advisable to go to psychological counseling on a permanent basis in order to learn to live with the disease. Those affected should pay particular attention to a healthy lifestyle. This includes a balanced diet rich in vitamins and avoiding alcohol, nicotine and drugs. If possible, sufferers should exercise.
This strengthens the metabolism and the immune system. Sport also has a positive effect on the well-being of those affected. Since life with the disease can be very limited, intensive contact with family and relatives is recommended. These can accompany those affected on their way and support them in everyday activities. Social contact with relatives should therefore be particularly cultivated.
You can do that yourself
In principle, this disease can be treated, but it requires a high degree of compliance on the part of the patient. If stem cell transplantation is not possible, he must also regularly take medication that eliminates excess iron in addition to the transfusions. There are various medications on the market for this purpose, which have to be taken differently and also have different side effects. The affected patient has to learn to live with these sometimes significant side effects. In addition, he must have a complete examination at least once a year, because the drugs that remove the iron can also cause permanent damage.
Those affected find support in self-help groups or associations, such as the association IST eV (www.ist-ev.org), which sees itself as a contact for both doctors and patients and their relatives. The Stefan Morsch Foundation (www.stefan-morsch-stiftung.com) also supports those affected with information and actively helps in the search for stem cell donors.
Thalassemia patients should pay attention to a balanced diet and a healthy lifestyle and avoid stimulants such as alcohol and nicotine. As far as possible, sport is advisable, because exercise activates the immune system and metabolism. At the same time, exercise improves mood. Since the quality of life can be very limited, especially in the most severe form of the disease, thalassemia major, psychotherapeutic accompanying treatment may help those affected.