Hemoglobinopathies, dangerous hereditary diseases

Hemoglobinopathies are hereditary blood diseases that alter the transport of oxygen and can cause various disorders, including the death of the woman or the baby in extreme cases.

In them there is an abnormal structure and production of the hemoglobin molecule, the protein in the red blood cells that carries oxygen. Approximately 5% of the world's population is a carrier of genes that cause hemoglobinopathies, including sickle cell disease and thalassemia.

  • Sickle cell disease It is characterized by a morphological alteration of the red blood cells, which lose their plasticity, so they can clog small blood vessels and reduce blood flow. Everything results in anemia (sickle cell disease or sickle cell anemia).

Women with sickle cell disease are especially prone to develop infections during pregnancy. Pneumonia, urinary tract infections and infections of the uterus are more frequent. It also increases the risk of hyperetension during pregnancy. The more severe the disease before pregnancy, the greater the risks during this stage.

  • Thalassemia They are also hereditary blood diseases. It is a blood disorder in which the body produces an abnormal form of hemoglobin, which leads to anemia. When the red blood cells do not have enough hemoglobin, the organs do not receive the necessary oxygen supply and stop functioning properly.

There are two main types of thalassemia (alpha and beta), which depend on the hemoglobin chain whose synthesis is altered. Both types can take mild or severe forms (which may require bone marrow transfusions or transplants), so each case is particular and the gynecologist must know the medical history and perform the necessary tests to determine the necessary preventive treatment or measures.

Being hereditary diseases, a simple, reliable and economical way of know if there is the possibility of having an affected child It is performing blood tests to identify couples at risk, before pregnancy.

It is estimated that more than 300,000 children with severe forms of these diseases are born worldwide each year, most of them in low- and middle-income countries.

But according to WHO it is possible to reduce hemoglobinopathies through a balance between the treatment of the disease and prevention programs. Hopefully we will see this figure reduced that diminishes people's quality of life, even endangering their lives.

Video: Hemoglobinopathies (May 2024).