Thalassemia is a genetic blood disease with a malformation of the red blood pigment. The result is anemia (“anemia”) that requires lifelong treatment. However, bone marrow transplantation can also help in cases of fully developed thalassemia.
What is thalassemia?
Thalassemia is an inherited form of anemia (“anemia”). The disease is also called Mediterranean anemia after its geographic occurrence, but it is also common in northern and western Africa and in the Middle East and southern Asia. Leptocytosis is another term for thalassemia. The genetic abnormality (mutation) affects the synthesis of the red blood pigment in the body. This “hemoglobin” consists of 2 proteins, the alpha and beta chains. 2 alpha and 2 beta units form a hemoglobin unit that carries the iron-containing heme group in the center and binds oxygen. Thalassemia means that the proteins of hemoglobin are altered compared to the “norm”. This results in a reduced oxygen supply to the organism as well as a disturbed metabolism of the red blood cells (erythrocytes) in thalassemia.
Causes
Thalassemia is a collective term for a variety of mutations of the hemoglobin genes. There are 2 basic forms that are distinguished based on the protein components affected:
1) Beta thalassemia: the beta chain genes of hemoglobin are defective. Geneticists identified thousands of mutations, most of which are molecular defects of DNA (hereditary molecule). In addition, chromosomal breaks (deletions) are a cause of the clinical picture. The major form of thalassemia is the most severe form. This case occurs when the “diseased” chromosome is contributed by both parents. If only the chromosome of one parent is defective, the minor form is formed (every human being has a double set of chromosomes, because he receives these
cell nucleus organelles from the father and from the mother). Besides
intermediate forms of beta-thalassemia are realized, so is the
Intermedia type is the intermediate variant, the Minor type is the asymptomatic variant. 2) Alpha-thalassemia: The genes of the alpha-chains of hemoglobin are defective. The gene is fourfold, 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, whereas the alpha type is a rare expression of thalassemia.
Symptoms, complaints, and signs
There are several forms of thalassemia. A distinction is made between thalassemia major, thalassemia intermedia, and thalassemia minor. In thalassemia major, anemia (anemia) symptoms appear, in the frequent cases already in the first year of life. These symptoms can be pallor, fatigue, weakness in drinking or an accelerated pulse (tachycardia). In some cases, hemolysis, the dissolution of red blood cells, and enlargement of the liver and spleen occur. Other symptoms of thalassemia major include iron overload or failure to thrive, i.e., impaired overall physical development of the child. If left untreated, secondary symptoms may include bone deformities, which can be seen especially on the face, infectious diseases, failure to thrive, or death. In thalassemia intermedia, symptoms may be similar to those seen in thalassemia major. However, in addition, the following symptoms also appear: thromboses, ulcers, gallstones, hypertension in the pulmonary vessels, tumors outside the bone marrow. Thalassaemia intermedia can occur in both children and adults and presents symptomatically in various forms. If the disease is left untreated, it can develop like thalassaemia major. Thalassemia minor shows mild or no anemia symptoms, making it the most debilitating form. In some cases, iron deficiency may occur; clinically, there is a normal life expectancy.
Diagnosis and course
The physician first detects thalassemia with microscopic examination of a blood sample. The erythrocytes are only faintly reddish in color and smaller than in a healthy person, and the blood laboratory reveals an insufficient concentration of hemoglobin. The gel electrophoresis procedure is used to separate and identify the components of hemoglobin. This is usually followed by lifelong therapy, because the liver and spleen are already enlarged in infants.In the course of thalassemia, the adolescents suffer from a general failure to thrive with underdevelopment of the organs and malformations of the skeletal apparatus. If left untreated, Mediterranean anemia leads to severe heart failure, liver dysfunction and diabetes at an early age. Also in need of treatment are the side effects of therapy in the setting of thalassemia.
Complications
Thalassemia can result in various complications. Among these, there is a risk of serious effects. One of the most common sequelae of thalassemia is iron overload. This means that there is an excess of iron in the organism either due to the disease itself or to a large number of blood transfusions as part of the treatment. The excess of iron increases the risk of impairment of the heart. The same applies to the liver and the endocrine system. Thus, the latter has glands that produce hormones that are important for the regulation of various body processes. Another possible consequence is splenomegaly. This results in an enlargement of the spleen, which in turn increases the risk of rupture of the spleen. In earlier years, splenectomy was often performed for this reason. If the spleen has to be removed, the affected persons suffer more frequently from infections. Bone deformities are also among the consequences of thalassemia. Thus, the bones are expanded due to the 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 from minor injuries. Other serious complications can include heart failure or liver failure. They are the effect of hemosiderosis, which damages the heart muscles and liver tissue. Because the islet cells in the pancreas are also affected, diabetes mellitus (diabetes) is imminent.
When should you see a doctor?
In the case of thalassemia, a medical examination and treatment should always be performed to prevent further complications. In this regard, a doctor should be consulted at the first symptoms of this disease so that no further complaints occur. Early treatment always has a positive effect on the further course of the disease. As a rule, a doctor should be consulted in the case of thalassemia if the affected person suffers from severe fatigue or severe pallor. These complaints usually cannot be compensated with the help of sleep or rest and do not disappear on their own. Furthermore, weakness in drinking can also indicate thalassemia and should be examined by a doctor in any case. 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 detected by a general practitioner. Further treatment then depends on the underlying disease and is carried out by a specialist. In this case, the further course of the disease also depends greatly on the time of diagnosis.
Treatment and therapy
Thalassemia must be treated from babyhood, and this is especially true for the full-blown major-type disease. Affected individuals need blood transfusions every month to compensate for the lack of effective hemoglobin. However, blood transfusions lead to an accumulation of iron that the body cannot fully excrete. The deposition of metal ions in various organs such as the heart, liver and pancreas can cause damage that must be avoided. Therefore, patients are given medications that cause the excess iron to be expelled. In the past, surgical removal of the spleen was part of the standard treatment for thalassemia. Today, this procedure is only considered ultima ratio because the resulting dysfunction of the immune system additionally 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. Of evolutionary biological note is the partial or total immunity to malaria in people with the syndrome of thalassemia.
Prevention
Thalassemia, as a genetic disease, is very problematic in prophylaxis.One chance to avoid 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. Eugenic measures are performed in some countries, but they pose ethical problems for many people in relation to the clinical picture of thalassemia because of abortion practices.
Follow-up
Affected individuals must have a full-body examination once a year if they have the disease, as the absorption of excess iron can lead to permanent damage to the body. Affected individuals are advised to join a self-help group on a permanent basis. There, experiences and ways of dealing with the disease can be exchanged. In this way, those affected do not have to feel alone with the disease and can find out other opinions on how to live with the disease. In addition, it is advisable to attend psychological counseling on a permanent basis in order to learn to live with the disease. Affected people should pay special attention to a healthy lifestyle. This includes a balanced diet rich in vitamins and abstaining from alcohol, nicotine and drugs. If possible, those affected should exercise. This strengthens the metabolism and the immune system. In addition, sport also has a positive effect on the condition of those affected. Since life with the disease can be very limited, intensive contact with family and relatives is recommended. They can accompany patients on their way and support them in everyday activities. Social contact with relatives should therefore be particularly cultivated.
What you can do yourself
This disease is treatable in principle, but it requires a great deal of compliance on the part of the patient. If a stem cell transplant is not possible, he or she must also take regular medication in addition to transfusions to eliminate excess iron. There are various drugs available on the market for this purpose, which have to be taken in different ways and also have different side effects. The patient concerned must learn to live with these side effects, some of which are considerable. In addition, they must undergo a complete checkup at least once a year, because the drugs that remove the iron can also cause permanent damage. Those affected can find support from self-help groups or associations, such as the IST e.V. association. (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, avoiding stimulants such as alcohol and nicotine. Within the scope of their possibilities, sport is advisable, because exercise activates the immune system and the 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, accompanying psychotherapeutic treatment may help those affected.
