In our previous articles, we talked about anemia due to iron, vitamin B12 and folate deficiency that develops due to nutritional deficiency. Now, we will talk about a disease that is genetically inherited, independent of nutrition, and is unfortunately common in our country.
Mediterranean Anemia, that is, Thalassemia, is a type of anemia disease that is generally seen in the Mediterranean region and can be passed on to subsequent generations due to genetic factors. There are 1.5 million carriers and around 4500 thalassemia patients in our country, and this number is increasing day by day because consanguineous marriages are common in our country.
If the mother and father are carriers, there is a 25% chance that the child will be sick. Thalassemia, which is an important health problem all over the world and one of the most common genetic diseases in our country, can be detected by screening tests. Therefore, it is a preventable disease. Therefore, parents must have a screening test before deciding on marriage or children.
Beta thalassemia, the most serious form of the disease, occurs after the baby is 6 months old and can cause organ damage. The disease is controlled with blood transfusions from the moment it is detected.
Today, stem cell transplantation is the definitive treatment of the disease. However, the fact that the organs are not damaged plays an important role in the success of the stem cell.
In people who are carriers of Mediterranean Anemia (Thalassemia), no significant findings other than anemia are observed and treatment is not required. is not needed. Thalassemia carrier status should be considered in the differential diagnosis, especially in children who have received iron or B12 treatment many times but still do not recover from anemia.
In thalassemia disease, there is a defect or deficiency in the genes related to the production of hemoglobin, a substance that carries oxygen in red blood cells. Hemoglobin, located in the red blood cells in our blood, carries the oxygen necessary for the tissues. In case of insufficiency or disorder in hemoglobin production, oxygen transport cannot be carried out adequately, and as a result of the decrease in oxygen in tissues and organs, complaints such as paleness, weakness, easy fatigue, palpitations, and developmental delay develop.
For Mediterranean anemia to occur, both parents must be carriers. Each child born to a man or woman who is both a thalassemia carrier has a 25 percent chance of being born with the disease, a 50 percent chance of being a carrier, and a 25 percent chance of being born healthy.
Since the risk of thalassemia is especially high in consanguineous marriages, these people must be diagnosed before marriage. It is of great importance that they have the necessary examinations.
If carrier status is detected in the mother and father, healthy children can be born by injecting the healthy embryos obtained by the Preimplantation Genetic Diagnosis (PGT) method through vaccination or in vitro fertilization. .
Thalassemia Major;
It is the most severe form of Mediterranean anemia and is a type of disease in which all symptoms are seen. Patients carry 2 thalassemia genes, inherited from the mother and father. In thalassemia patients, in addition to severe anemia, jaundice, spleen enlargement, weakness, indifference to the surroundings, easy catching of infections, growth retardation, enlargement and thinning of the bones, flattened nose root, and abnormal facial appearance with protrusion in the forehead and other facial bones may occur. Patients need lifelong blood transfusions and It requires medications to remove excess iron from the body. The definitive treatment today is bone marrow transplantation.
Thalassemia Intermedia
It is an intermediate form of the disease. Men and women are carriers, but unlike thalassemia major, the change in genes causes more moderate anemia. Patients generally do not need blood transfusion. Complaints become evident between the ages of 2-4. Jaundice, spleen-liver enlargement, growth retardation may occur. Supportive blood transfusions may be required during infections.
Thalassemia Minor (Thalassemia Carrier)
People have the thalassemia gene but are healthy due to the other intact gene. However, if a person has a child with another carrier, there is a possibility that the child will have thalassemia. Being a thalassemia carrier is not a disease, but mild anemia and weakness may occur.
Thalassemia Minima
(Thalassemia carrier): Findings thalassemia It is the same as in minor, but hemoglobin electrophoresis is found to be normal and the diagnosis is made by gene analysis.
Mediterranean anemia mimics iron deficiency due to its symptoms such as paleness and easy fatigue. For this reason, thalassemia, which is confused with anemia, also causes the following complaints from early childhood:
Extreme paleness of skin color
Abdominal swelling due to the gradual enlargement of the liver and spleen
Anemia
Growth and development retardation
Jaundice
Stones in the gallbladder
Bone deformities
Weak and sensitive Bone fractures due to bones
Prominence in the forehead and cheek bones.
Flatness in the root of the nose, protrusion in the upper jaw.
Delay in the onset of menstruation.
In the legs. Wounds and darkening of the skin may also indicate thalassemia.
If the excess iron accumulated in the body due to blood transfusion cannot be discharged in patients receiving thalassemia treatment, problems such as heart failure, disruption of the hormonal system, bone deformity and spleen enlargement occur.
Treatment Methods
Treatment of thalassemia is carried out with the participation of experts from many branches, since the disease affects various parts of the body. The cooperation of the doctor and the family is very important in continuing the treatment regularly and not disrupting the necessary examinations.People with Mediterranean anemia need regular blood transfusions throughout their lives. These transfusions can be repeated every month.
Regular blood transfusion, which is essential for the treatment of thalassemia disease, causes iron accumulation in the body and damages many organs from the heart to the liver. For this reason, iron excretion is achieved with the help of oral medications.
Stem Cell Transplant
Today, bone marrow transplantation is the definitive treatment for thalassemia. If a successful transplant occurs, the patient can continue his life without blood support and its side effects.
Thalassemia patients should be monitored for calcium and vitamin D, as well as regular iron levels throughout their treatment. and administering supportive treatments when needed It needs to. All people with thalassemia must be vaccinated against hepatitis A and B.
In nutrition; A diet low in iron and containing sufficient calcium and vitamins should be followed. However, this does not apply to thalassemia carriers.
Read: 0
