What is thalassemia?
Thalassemia (abbreviated as "ground poverty"), also known as marine anemia. It is a hereditary hemolytic disease that is characterized by a defect in the globin gene on the chromosome, resulting in a decrease in the synthesis of the corresponding globin peptide chain or inability to synthesize into a feature. It is mainly divided into two categories: α-thalassemia and β-thalassemia.
Thalassemia is one of the most common and harmful genetic diseases in the southern part of the continent. Investigation data show that guangdong, Guangxi and Sichuan are more common in the mainland, and there are sporadic cases in the provinces and regions south of the Yangtze River, and rare in the north.
The genetic law of land poverty
Thalassemia inheritance pattern: autosomal recessive inheritance - heterozygotes do not occur, but can inherit the causative gene. If both parents are the same type of mild poverty (i.e., carriers of the poor gene), after pregnancy, 1/4 of the fetuses they conceive are normal fetuses, 1/2 are mild poverty (the same as parents), and 1/4 will be moderately severe poverty patients.
Clinical manifestations of ground poverty
1. Quiescent or mild ground poverty: no obvious symptoms, does not affect daily life and work, does not require special treatment, but may pass on abnormal genes to the next generation.
2. Intermediate type of land poverty: individual differences are larger, mild to moderate anemia, special appearance of poor land, fatigue and weakness, hepatosplenomegaly and mild jaundice, heavy cases need regular blood transfusion and iron removal therapy.
3. Severe ground poverty: including heavy α and heavy β poor, heavy α poor is also known as Pap edema fetus {i.e. Hb Bart syndrome), the fetus is manifested as severe anemia, edema, hepatosplenomegaly, often in the third trimester of pregnancy stillbirth or death a few hours after birth. Severe β often begin to appear symptoms in the first 3 to 6 months after birth, mostly manifested as severe anemia of exocarparates, pale face, hepatosplenomegaly, jaundice, stunted, with a typical special appearance of poor poverty: head enlargement, frontal bulge, cheekbones protruding, nose bridge collapse, widening of the eye distance, etc., if there is no normative blood transfusion and iron removal treatment, most of them die before they are minors
The Advent of the Poor
How can poverty be prevented?
Although there is no cure for local poverty, it can be prevented, and through screening for local poverty before marriage, pregnancy or pregnancy, it is currently the most effective measure to prevent local poverty by identifying families that may be born with children with moderate and severe poverty, and to carry out prenatal diagnosis to prevent the birth of children with moderate and severe poverty.
Screening methods for poverty alleviation
Prenatal screening for local poverty is a blood test routine by both husband and wife through blood draw, hemoglobin electrophoresis preliminarily determine whether to carry the local poverty gene, if the results suggest that the poverty is suspicious, further poverty gene testing must be further to confirm whether it is poverty and what kind of poverty.
Which pregnant women require prenatal diagnosis
If it is mild thalassemia, it does not require special treatment and will not seriously affect life. We only need to prevent the birth of children with moderate and severe poverty, so if both couples are carrying the same type of poverty genes, after pregnancy, villous hair, amniotic fluid or umbilical cord blood can be taken for poverty gene testing, if the fetus is severe poverty, it is recommended to terminate the pregnancy.
The following conditions require prenatal diagnosis at the time of pregnancy:
1. Pregnant women who have given birth to severe or intermediate-type land poverty
2. Both husband and wife are carriers of the α or poor genes in β land
3. One spouse is a carrier of the gene of α or β poor land, and the spouse is a compound poor person.
Treatment of ground poverty
At present, there are no drugs and mature gene therapy methods for local poverty, standardized long-term blood transfusion and iron removal therapy is the most important method for the treatment of medium and severe local poverty, and splenectomy is only a palliative means of treating local poverty. Hematopoietic stem cell transplantation is currently a possible cure for severe β, and is divided into bone marrow transplantation, peripheral blood stem cell transplantation and cord blood transplantation according to stem cell source. If there is a human leukocyte antigen (HLA)-matched supply of hematopoietic stem cells, it should be the treatment of severe β poor. The younger the age, the better the transplantation effect, and the conditional child should receive a hematopoietic stem cell transplant as early as possible (2-6 years old). In recent years, there have been reports of success in severe β local poverty.