Mediterranean anemia, also known as thalassemia or thalassemia, is a group of hereditary hemolytic anemia diseases. It is more common in Guangdong, Guangxi, and Sichuan provinces in China, with sporadic cases in provinces south of the Yangtze River and less common in the north. Do you know the symptoms of thalassemia?
Mediterranean anemia is widely distributed in many regions of the world, with Southeast Asia being one of the high-risk areas. This is due to genetic defects, such as missing or insufficient synthesis of one or more globin chains in hemoglobin, resulting in anemia or pathological conditions. According to the severity of the condition, it can be divided into the following three types.
1. Heavy duty
Within a few days of birth, anemia, progressive enlargement of the liver and spleen, jaundice, and developmental abnormalities occur.
Its special manifestations include: large head, widened eye distance, saddle nose, protruding forehead, and protruding cheeks. Its typical manifestation is a hip shaped head, and long bones can be fractured. Skeletal changes are caused by hyperfunction of bone marrow hematopoiesis, widening of the bone marrow cavity, and thinning of the cortex. A small number of patients develop thoracic masses between the ribs and spine, as well as gallstones and lower limb ulcers.
2. Intermediate type
Mild to moderate anemia, most patients can survive until adulthood.
3. Lightweight
Mild anemia or asymptomatic symptoms are usually discovered during the investigation of family history.
Clinically, it is generally believed that mild thalassemia does not require special treatment. Intermediate and severe thalassemia should be treated using one or more of the following methods.
1、 General treatment of thalassemia
Pay attention to rest and nutrition, and actively prevent infections. Adequate supplementation of folic acid and vitamin E.
2、 Drug therapy for thalassemia
This method is still one of the important treatment methods at present, divided into two methods: red blood cell infusion and iron chelator.
3、 Splenectomy
Splenotomy has a good therapeutic effect on blood red and white H disease and intermediate type β - thalassemia, but a poor effect on severe β - thalassemia. Splenotomy can lead to weakened immune function, and should be performed after the age of 5-6 with strict indications.
4、 Hematopoietic stem cell transplantation
Allogeneic hematopoietic stem cell transplantation is currently the method that can cure severe β - thalassemia. If there are HLA matched hematopoietic stem cell donors,; It should be the preferred method for treating severe β - thalassemia.
5、 Gene activation therapy
The application of chemical drugs can increase the expression of gamma genes or decrease the expression of alpha genes to improve the condition of beta thalassemia. Drugs that have been used clinically include cytarabine, 5-azacytidine (5-AZC), cytarabine, Maryland, isoniazid, etc., which are currently being explored.
In southern provinces and regions such as Guangxi, Guangdong, and Hainan, carriers of the Mediterranean anemia gene account for over 20%. Mediterranean anemia gene carriers or mild Mediterranean anemia patients usually have no obvious symptoms, and only premarital examinations can prevent this disease in advance and achieve eugenics.
