Unfortunately there are diseases that, for genetic reasons, parents transmit to our children almost without being able to avoid it. One of them is thalassemia, a blood disease without cure (the child can carry a gene from each of his parents or only one from the father or mother), but with treatment that can reduce symptoms and discomforts, in this case decay and weakness in the child. Let's learn more about the thalassemia in children.
Normally the human body is made up of millions of cells and each one has a specific function, which, according to its activity, maintains the body's functions for its best and optimal performance. At the level of the blood, there are cells called red blood cells, which are the ones in greatest quantity and with a very important function, which is the transport of oxygen throughout the body thanks to what is known as hemoglobin.
Hemoglobin is a protein in the blood that is responsible for transporting oxygen to every corner of the body, to keep it alive and healthy, and the absence of oxygen is incompatible with life. In children, unfortunately, a blood disease can occur that compromises the oxygenation of their body and This disease is called thalassemia.
Thalassemia is a hereditary blood disease (transmitted by genes of both parents) that affects the production of hemoglobin at the level of red blood cells. This causes anemia that results in a low level of red blood cells or hemoglobin, thus affecting the transport of oxygen in the body. It is not contagious, it has no cure but there is treatment and its severity will depend on whether the child has two altered genes (one from the father and the other from the mother), hence it cannot be said that it has a cure (it is genetic), but it does action can be taken to reduce symptoms.
Normally red blood cells are four months old and new red blood cells are produced daily in the body, replacing those that the body loses or those that die daily. When there is thalassemia, these red blood cells will quickly destroy themselves, causing anemia in the child and producing a series of symptoms that I will mention later.
In thalassemia we can find several types, but the most frequent are:
- Alpha-Thalassemia: when the production of alpha-globin is affected.
- Beta-Thalassemia: when beta-globin production is affected.
Beta-thalassemia can be moderate or severe and is most commonly suffered by people of Africa, Asia, and of Mediterranean descent. Within beta-thalassemia we can get three types and each one will depend on the number of mutations and their severity, which are:
1. Beta-thalassemia minor: Only one gene mutates. The anemia is very mild, has few symptoms, and does not need treatment.
2. Beta-thalassemia major (Cooley's anemia): The mutation is in both beta-globin genes. It is the most serious form of thalassemia. Here children can be born apparently healthy, but it begins to manifest after two years. It is very serious and requires treatment.
3. Beta-thalassemia intermedia: the mutation is in both genes, but less severe. The anemia is mild and usually does not require treatment.
If a patient over 2 years old comes to my office, who is consulted by his parents because he presents a lot of weakness, decay, shortness of breath and fever, which has worsened in recent weeks, especially after physical activity, I should ask about the personal and family history, looking for any pathology.
If, afterwards, when practicing the exhaustive physical examination, I realize that the child has a marked mucous skin pallor, with slight jaundice tinge, mild dyspnea, abdominal distension and with failure of the body-stature development, my duty would be to request laboratory tests such as complete hematology, looking for the red blood cell count and hemoglobin, where it could show the presence of severe anemia, orienting me towards an anemic syndrome of etiology to be specified.
He would also request iron deposits in the blood, which could be elevated as a complication of the rapid destruction of hemoglobin and, upon suspecting thalassemia, could request a genetic study for both parents.
The treatment will depend on what type of thalassemia you have, if it is minor, major or intermediate, as I said before, the most serious is thalassemia major, which requires frequent blood transfusion and a possible bone marrow transplant.
The recommendations that I can leave you with this type of disease are:
- Keep your children in your pediatric control, since there we can notice many symptoms that parents sometimes do not take into account, perhaps many times due to ignorance of them.
- Consult as soon as their children report any discomfort.
- important know the family history, especially hereditary diseases.
- Do not self-medicate.
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