What do you think thalassemia
is like?
NoNoNo!
Thalassemia is not as simple as ordinary anemia.
Or is it like this?
What are you thinking!
Thalassemia has nothing to do with this fashionable hairstyle.
The reason why it is called "thalassemia"
is because this anemia was first discovered on the Mediterranean coast. Thalassemia is a hereditary disease.
According to Guangdong The baseline survey of the provincial Thalassemia prevention and control project found
The thalassemia gene carrying rate among people of childbearing age with household registration in Guangdong is about 16.8%
Most patients with severe thalassemia died before they were minors
To give birth to a healthy baby
Understanding thalassemia cannot be ignored
What exactly is thalassemia? ✦
Thalassemia (referred to as "thalassaemia"), also known as " globin dysgenesis anemia " in some domestic academic journals in my country, can be simply understood as: " globin " in the human body Dongdong has a "generation disorder" that causes body anemia .
What exactly is "globin"?
What if it has a generation disorder? ? Why does
cause anemia? ? ?
To understand "globin", we need to first understand red blood cells . The main function of red blood cells is to transport oxygen , transport oxygen to various parts of human body tissues, and then transport the metabolite carbon dioxide from various parts. It can be said that red blood cells are the indispensable "transport team" in our body.
Red blood cells The red blood cells in the human body are in the shape of a round cake with convex sides and a concave center
(a bit like a "doughnut" without a hole in the middle).
The protein responsible for transporting oxygen in the red blood cell "transport team" is called hemoglobin molecule. One hemoglobin is composed of 4 globins and 4 ferrous hemes. And "globin" is the "backbone of the transportation team", existing like a "courier boy". (blood is red because it contains heme)
So...
"globin" has a production obstacle,
is like a "delivery boy" when someone does not show up for work,
or there are fewer people on duty, etc., which leads to transportation efficiency Decreased,
leads to a decrease in the number of the human body's "transport brigade",
or a decrease in transportation capacity,
When the number of red blood cells and hemoglobin content are reduced to a certain extent,
is called
anemia .
Why does globin production appear to be blocked?
(That is, why did the courier boy have problems?)
Someone on the courier boy was sick and absent from work?
The original courier boy was replaced?
is possible!
This is what "professionals" say:
Thalassemia is a type of hereditary hemoglobinopathy in which the globin gene is deleted or is mutated to , resulting in reduced synthesis of the globin chain .
When there is a problem with genes,
it may be passed on to future generations.
So thalassemia is a hereditary disease!
How to read the thalassaemia report form during prenatal check-up? ✦
Hemoglobin in red blood cells is composed of two types of globin: α-globin chain and β-globin chain. Here we focus on the two most common α-thalassemia and β-thalassaemia gene detection report Interpretation (Thalassemia mainly includes α-thalassemia, β-thalassemia, δ-thalassemia, γ-thalassaemia, δβ-thalassemia and εγδβ-thalassaemia, etc.)
Interpretation steps
01
The first step
Look at the inspection items : Thalassemia gene diagnosis
01
The second step
Look at the note at the bottom of the report: The detection range is written in detail and the gene types that can be detected
01
The third step
Look at the inspection results in the middle of the report:
If it is marked "Not detected ..." means that there is no problem with the genes in the detection range;
If it is marked "Detected..., the genotype is...", it means that the test results are abnormal
Comparison of clinical symptoms of α-thalassaemia and β-thalassaemia Table
Note: --SEA/ --SEA in α-thalassaemia genotype and major in β-thalassaemia are fatal thalassemias. Pregnant couples should avoid the birth of children with such thalassemia major. .
How to avoid giving birth to a baby with thalassemia? ✦
If you want to avoid giving birth to a baby with thalassemia, it is important to do a good job prenatal diagnosis .
Expectant parents must be very familiar with the term "prenatal check-up". Prenatal check-up is called "prenatal check-up". It is a regular routine check-up for expectant mothers throughout pregnancy to understand the general conditions of the mother and fetus, so as to detect problems in a timely manner. And giving correction is a health care measure. Including medical history, physical examination, gynecological examination, ultrasound and blood tests.
"Prenatal diagnosis" is not "prenatal check-up", and the two are not the same concept.
"Prenatal diagnosis" is also called prenatal diagnosis or intrauterine diagnosis. It refers to the application of various methods to understand the external structure of the fetus before birth, conduct karyotype analysis of the fetus' chromosomes, detect the biochemical components of fetal cells, or perform genetic analysis on them. This enables timely diagnosis of certain fetal congenital malformations or genetic diseases and prevents the birth of fetuses with severe genetic diseases, intellectual disabilities and congenital malformations.
"Prenatal check-up" is a routine pregnancy check-up that "every pregnant woman" must undergo, while "prenatal diagnosis" is aimed at "high-risk prenatal screening (such as high-risk Down syndrome screening, high-risk NIPT)" , high risk of thalassemia, etc.) or pregnant women with adverse maternal or family history" , and is an examination to further confirm the high-risk fetus. The object is the fetus, not the mother. It is an invasive Methods, chorionic villus biopsy, amniocentesis , and umbilical vein puncture can be used.
For couples at high risk of thalassemia, further "prenatal diagnosis" of the fetus is necessary to avoid the birth of children with thalassemia major.
Which couples are “thalassaemia high-risk couples”?
① Both the couple are α-thalassaemia, which is a high-risk couple
(note: except for those where both parties are -α3.7/ αα, -α4.2/ αα, αWSα/ αα)
② Both the couple are β - Thalassemia is a high-risk couple.
How to avoid having children with severe thalassemia?
1. Natural pregnancy
High-risk couples can choose to get pregnant naturally. Expectant mothers need to go to the prenatal diagnosis center at the appropriate gestational age to receive prenatal diagnosis of the fetus.If the diagnosis results show that the fetus is a child with thalassemia major, medical intervention is required
2, preimplantation genetics diagnosis
High-risk couples can also choose preimplantation genetic diagnosis (commonly known as "third-generation in vitro fertilization") technology"), go to the prenatal diagnosis center at the appropriate gestational age to receive prenatal diagnosis of the fetus
3. Other
high-risk couples can also choose to donate sperm, eggs, or adopt
Source: Medical Genetic Center of Guangdong Maternal and Child Health Hospital
Correspondents: Yao Cuize, Zhu Juan
Internship editors: Wen Jialin, Guo Can
Editor: Chen Jia
Editor in charge: Chen Guangtai
The prevention and treatment of thalassemia cannot be ignored
