World Thalassemia Day | Pay attention to thalassemia and attach importance to screening!

May 8, 2024 is the 31st "World Thalassemia Day". The theme of the event is "Pay attention to thalassemia, screening, diagnosis and treatment are equally important", aiming to raise the awareness and attention of the whole society to thalassemia, guide newlyweds and couples planning pregnancy to actively participate in thalassemia screening and subsequent prenatal diagnosis and other services, strengthen thalassemia prevention and control, and protect the health of mothers and children.

Image source: Pixabay

What is Thalassemia

Thalassemia was first discovered in people in the Mediterranean region, hence the name. It is not a simple anemia. Mild cases require blood transfusions to survive, while severe cases result in stillbirth.

Thalassemia is a group of hereditary hemolytic anemia diseases. It is caused by defects in the globin gene (thalassemia gene), which reduces or prevents the synthesis of one or several globin peptide chains in hemoglobin, leading to changes in the composition of hemoglobin, and then causing chronic hemolysis and anemia. According to the damage to the globin peptide chain in hemoglobin, thalassemia is mainly divided into two types: thalassemia a and thalassemia b. According to clinical symptoms, thalassemia a can be divided into static type, mild (standard type), intermediate type (ie hemoglobin H disease, HbH disease) and severe type (ie Hb Bart fetal hydrops syndrome), and thalassemia b can be divided into mild, intermediate and severe types.

The main culprit is the gene deletion or point mutation of the alpha (a) gene or beta (B) gene, which causes the red blood cells to become "sickle-shaped", leading to abnormal synthesis of hemoglobin, the substance responsible for transporting oxygen in the blood, and causing disease.

Screening and prevention

There is no cure for thalassemia.

So the emphasis is on screening and prevention.

★How to conduct preliminary screening?

During routine blood tests, find the mean corpuscular volume (MCV). If it is lower than normal, you may have thalassemia and need further examination. Chongqing is a high-incidence area for thalassemia. The latest data shows that the average thalassemia gene carrier rate in Chongqing is 7.9%.

Most fetuses with alpha (a) thalassemia major will be stillborn before birth or die soon after birth.

Most children with severe beta (B) thalassemia have no symptoms at birth, but begin to develop anemia 3-6 months later and the condition gradually worsens. They also develop a thalassemia face with pale complexion, large head, prominent cheekbones, wide-set eyes, and a sunken nose. They require lifelong blood transfusion treatment and their average life expectancy does not exceed 20 years.

If a couple is a carrier of the same type of thalassemia gene, for example, both husband and wife are carriers of the Alpha or Beta gene, each time they become pregnant, their children have a 1/4 chance of being normal; a 1/2 chance of being a gene carrier; and another 1/4 chance of being a patient with severe thalassemia.

If only one of the couple is a carrier of the thalassemia gene, then each time they become pregnant they have a 1/2 chance of giving birth to a thalassemia gene carrier and a 1/2 chance of giving birth to a completely normal baby.

The thalassemia gene carriers will not affect the health of themselves or their spouses; nor will they have any impact on their daily life and work, but the onset of the disease is hidden and difficult to detect. The best way to prevent thalassemia is premarital examination, pregnancy examination, and prenatal screening.

Source: Chongqing Institute of Population and Family Planning Science and Technology

Author: Author: Peng Na, Department of Obstetrics and Gynecology, Affiliated Hospital of Chongqing Population and Family Planning Research Institute

Audit expert: Xu Xiaoou

Statement: Except for original content and special notes, some pictures are from the Internet. They are not for commercial purposes and are only used as popular science materials. The copyright belongs to the original authors. If there is any infringement, please contact us to delete them.