Thalassemia

21:55 - 4 May , 2021

Disease

What is Thalassemia?

It is a hereditary blood condition that affects the body's ability to produce hemoglobin and red blood cells, which are responsible for carrying oxygen to the body, which can cause mild to severe anemia. Thalassemia is caused by a genetic defect that prevents the normal development of one of the hemoglobin chains (alpha or beta). Therefore, the two types of thalassemia are named after both:
  • Alpha: formed by two genes located on chromosome 16.
  • Beta: designed by a single gene located on chromosome 11.
In both types, when the thalassemia is mild, there may be no need for treatment, but if it is severe, frequent blood transfusions may be necessary.

Symptoms

Symptoms will depend on the type of thalassemia and its severity, but the most common signs are:
  • Lack of energy.
  • Abnormalities in the bones of the face and skull.
  • Tiredness.
  • Abdominal swelling.
  • Dark colored urine.
  • Paleness.
Potential risks:
  • Spleen swelling.
  • Delayed growth.
  • Bone deformities, mainly in the face and skull, as well as frequent fractures due to the bones becoming weak and brittle.
  • Recurring infections.
  • Heart failure.
  • Arrhythmia.
  • Excess iron from treatments that can affect the heart, liver, and endocrine system.
  • Death.

Diagnosis and treatment

Once the doctor analyzes the symptoms and clinical history, they will perform a physical examination and request blood tests to determine the number of red blood cells (color, shape, and size) and analyze the DNA in search of mutated genes. If one of the parents has thalassemia, prenatal tests can be done to confirm the diagnosis and determine the severity of the thalassemia through:
  • Amniocentesis.
  • Chorionic villus biopsy.
The treatment to follow will depend on the type of thalassemia you suffer from. In moderate to severe cases, the following may be required:
  • Regular blood transfusions that over time can lead to an iron buildup in the blood that can have heart and liver consequences, among others.
  • Chelation therapy to remove excess iron from the blood, which may be supplemented by oral or intravenous medications.
  • Spinal cord and bone marrow transplant from a compatible donor to eradicate continuous blood transfusions and the intake of drugs to control iron overload.
  • Removal of the spleen due to damage caused by blood transfusions.
  • Surgery to correct skeletal system problems.
At the Pediatric Center we provide specialized care to small patients from the moment of birth until they become adults, through our pediatric care, oncology, neurology, and cardiology services at the level of the best medical centers in the world.

Fuentes:

  • kidshealth.org
  • cigna.com
  • medlineplus.gov
  • mayoclinic.org
  • msdmanuals.com
  • medigraphic.com
  • Quero HA, Zárate AR, Quero EA, et al. Síndrome de bilis espesa en un neonato con Síndrome de Beta- Talasemia Menor. Reporte de caso y revisión de la literatura. Bol Clin Hosp Infant Edo Son. 2019;36(1):35-42.
  • Angulo UG, Koss HR, Monge OJM. Generalidades y tratamientos emergentes en la Beta-talasemia. Revista Médica Sinergia. 2020;5(12):1-15.
  • Lugones BM, Hernández ÁF. Beta talasemia y embarazo. Revista Cubana de Obstetricia y Ginecología. 2017;43(2):1-9.
  • Ruiz-Reyes G, Ruiz-Argüelles GJ, Guzmán O, et al. Nosographic performance of the red cell distribution width (RDW) for the diagnosis of thalassemia. Rev Hematol Mex. 2010;11(3):141-145.

						
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