A user in the group said something, a child of a friend of hers, not long after birth, suddenly had needle-like bleeding points on her body, and the friend immediately took the child to the hospital, She was diagnosed with thrombocytopenia. I heard that this disease is very rare. She is about to become a mother herself. She is very worried when she sees this situation, and hopes to popularize this disease.
What is thrombocytopenia?
Thrombocytopenia, or GT for short. It is due to mutations in the ITGA2B and ITGB3 genes that lead to qualitative and/or quantitative defects in the platelet membrane glycoprotein GP IIb/IIIa (integrin αIIbβ3), resulting in poor platelet and blood clot contractile function and aggregation dysfunction.
This is a very rare inherited disorder of platelet function that is autosomal recessive. At present, there is 1 case in 1 million people abroad. Among the more than 100 patients reported in China, the proportion of women and men suffering from the disease is similar. There is no statement that women or men have a higher incidence.
Bleeding is a frequent occurrence for people with thrombocytopenia. For example, the most common situation in adults is bleeding gums, and sometimes hemorrhagic joints and gastrointestinal bleeding. If you are a female patient, you are more likely to experience heavy menstrual flow and even inexhaustible menstrual blood each time you menstruate.
Newborns will see purpura on their bodies after birth. When the child laughs or cries, there will be some petechiae on the face, there will be bleeding under the eyeball conjunctiva, and there will be repeated nosebleeds for a long time.
As people with thrombocytopenia will suffer from chronic bleeding for a long time, their overall immunity will be very low, and they are easily infected with some pathogenic bacteria, thus suffering from various infectious diseases.
After contracting these diseases, the patient will experience a series of problems such as excessive fatigue, lethargy, pale complexion, and weakness of the limbs due to the lack of blood in the body.
Why does thrombocytosis occur?
What causes thrombocytopenia?
As mentioned above, the cause of thrombocytopenia is caused by a series of abnormalities in the quantity or quality of platelet membrane glycoprotein IIIa or IIb.
IIIa and IIb complexes belong to the source receptors of fibrin and are also calcium-dependent multimers. It can be combined with vWF, thrombus-sensitive protein, and fibronectin, and then under the action of a series of physiological inducers such as ADP and TXA2, platelets are aggregated, so that platelet thrombus at the damaged blood vessel cannot be formed, and finally bleeding occurs. more than that.
Thrombocytopenia is globally dispersed, and within these specific populations a large proportion of GT cases are found, such as Hindus in southern India, French Gypsies, Jordanian Arabs , Iraqi Jews, etc. The investigation team found that they all have a common feature, that is, consanguineous marriage, or the existence of a certain blood relationship between husband and wife.
There are also cases in our country that have been confirmed, and heredity is one of the most important causes of the disease. A 4-year-old child was diagnosed with thrombocytopenia. His parents wanted to regenerate a healthy child through an artificial test tube, but after doing a genetic test, there was still a quarter of the possibility of having another child with thrombocytopenia. , finally had to give up.
Therefore, before preparing to conceive, you can first determine whether the couple carries the disease-causing gene through the genetic examination of GPⅢa or GPⅡb. As long as one of the two parties suffers from it, it is very likely to be passed on to the next generation.
How should thrombocytopenia be managed?
Since it is known that thrombocytopenia is more common in consanguineous relationships, when choosing a partner for love and marriage, one must avoid marrying close relatives and having children. Pre-marital medical examinations for both parties, genetic counseling and preventive work. Pregnant mothers should avoid harmful factors as much as possible, stay away from radiation, alcohol, smoke, heavy metals, toxic gases, etc.
If it has been diagnosed, it is necessary to avoid strenuous exercise as much as possible to avoid bleeding from the wound.
So far, there is no specific drug for thrombocytopenia, which can treat patients, and cannot be cured by surgery.
Therefore, people with this disease, whether adults or infants, can only pay more attention in their daily life and do a good job in preventing bleeding. Usually there is bleeding from the gums, nosebleeds or nosebleeds, and the bleeding must be stopped immediately. If the bleeding cannot be stopped in time, it must be sent to the hospital immediately.