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Things you should know about thalassemia

Updated: 2020-05-13


1. What is thalassemia?

Thalassemia is a kind of hereditary anemia caused by inadequate hemoglobin synthesis, or inability to synthesize hemoglobin due to genetic defects.

It is highly prevalent in areas south of the Yangtze River in China, such as Guangdong province, Guangxi Zhuang autonomous region, Hainan province, Sichuan province, Chongqing.

2. What is the difference between thalassemia and general anemia?

Anemia refers to a decrease in the number of red blood cells or hemoglobin in the blood. Generally, mild anemia will not affect the human body, but severe anemia will cause human tissues to not get enough oxygen and lead to disease. The most common anemia is iron deficiency anemia (IDA) and thalassemia.

IDA is caused by insufficient iron in the human body, which may be caused by insufficient intake of iron in your food or excessive loss of iron due to blood loss. The use of chalybeate or frequent consumption of foods with high iron content can correct such anemia.

Thalassemia is an inherited anemia caused by a genetic defect that cannot be cured with drugs at present.

3. What are the symptoms of thalassemia?

According to the different clinical symptoms, thalassemia is divided into a static type, mild type, intermediate type and severe type.

The static or mild type thalassemia (also known as thalassemia gene carriers) has no or only mild symptoms of anemia, does not affect daily life and work, does not require special treatment, but tends to pass on abnormal genes to the next generation.

Intermediate or severe thalassemia mostly manifests itself as moderate to severe anemia, hepatosplenomegaly, systemic edema, etc. Fetuses with severe symptoms may die in the uterus in the third trimester of pregnancy or die within a few hours after birth. Even if they survive, if not treated with normative blood transfusion and iron excretion, more deaths occur before long and the treatment cost is extremely expensive.

4. Do you need to be screened for thalassemia if you don't have any symptoms?

Most people are carriers of thalassemia genes and do not show any symptoms of anemia, or only minor anemia and cannot judge whether there is thalassemia by the symptoms of anemia, which requires formal screening and genetic testing to determine.

5. How to prevent the birth of children with the severe type of thalassemia?

If a couple carries the same type of thalassemia gene (except for static type thalassemia), they are at a certain risk of having a child with moderate to severe thalassemia.

Pre-marital prenatal eugenic examination reveals whether couples carry the same type of thalassemia gene and are at risk of conceiving children with moderate to severe thalassemia. They can guide these couples to receive genetic counseling before pregnancy or prenatal diagnosis as soon as possible, to avoid the birth of children with severe thalassemia.