Haemophilia is a rare genetic disease. The main symptoms are abnormal coagulation function and difficulty in forming blood clots to stop bleeding. In other words, the patient’s blood does not clot easily and bruises easily. Therefore, the patient needs long-term injections of coagulation factors to help relieve the symptoms.
In addition, some people may mistakenly think that hemophilia is blood cancer. This is incorrect because blood cancer is actually the common name of leukemia. The following will introduce you to the symptoms, causes, genetics and precautions of hemophilia.
6 major symptoms of hemophilia
The symptoms of hemophilia vary in severity depending on the concentration of coagulation factors in the patient’s blood. They are listed below:
- Mild: The concentration of coagulation factors is between 5% and 30%
- Moderate: Coagulation factor concentration is between 1% and 5%
- Severe: coagulation factor concentration less than 1%
If the coagulation factor is mild, the patient will only be at risk of bleeding during surgery or major wounds; if the coagulation factor is severe, the patient may experience spontaneous bleeding. The six common symptoms of hemophilia are as follows:
- Large bruises
- Hematuria, bloody stool
- Unexplained nosebleeds
- Joint pain, swelling, or tightness
- Abnormal bleeding after vaccination
- Unexplained bleeding after a wound, surgery, or visit to the dentist
Some patients with more severe hemophilia may develop symptoms of intracranial hemorrhage due to a slight impact on the head. Although such cases are rare, you should also be careful of other symptoms:
- Prolonged headache
- Drowsiness or lethargy
- Keep vomiting
Causes of hemophilia: genetic inheritance or mutation
The blood of hemophilia patients lacks proteins that help blood clot. There are 13 normal coagulation factors. According to the type of factor the patient lacks, it can be divided into the following three types:
- Hemophilia A: Lack of clotting factor 8
- Hemophilia B: lack of clotting factor 9
- Hemophilia C: lack of clotting factor 11
Types A and B are the most common, while type C has milder symptoms. The cause of hemophilia may be genetic defects or gene mutations. It is genetically recessive and sex-linked. That is, when a pair of chromosomes (two) have defects, hemophilia will occur. disease symptoms.
Hemophilia X chromosome recessive inheritance
In the gene sequence, humans have 23 pairs of chromosomes. The 23rd pair of chromosomes determines gender, called sex chromosomes. Females are XX and males are XY. The eighth and ninth coagulation factors are both located on the X chromosome. If a female If only one X chromosome is defective and the other is normal, blood can still coagulate normally. However, if a son inherits a defective X chromosome, hemophilia symptoms will occur. Therefore, most hemophilia patients are male.
In order to prevent the inheritance of hemophilia, if someone in the family history has had hemophilia, expectant mothers can assess the risk of genetic diseases through prenatal examination and prenatal consultation.
Genetic testing for hemophilia before and after pregnancy
During pregnancy, pregnant women can also use Chorionic villus sampling (CVS) or amniocentesis to detect whether the fetus has hemophilia. However, these two tests may lead to miscarriage or premature birth. , so it is recommended that pregnant women discuss it with their doctor before undergoing examination. After the newborn is born, blood from the umbilical cord can be taken for blood testing.
Other considerations for people with hemophilia
Although there are injection treatments that can allow patients with hemophilia to live a normal life, patients should still pay attention to the following three things:
- Sports that avoid physical contact, such as basketball, football, and rugby
- Maintain oral health, prevent gum disease, and minimize visits to the dentist
- Be aware that medications, such as aspirin or ibuprofen, may affect the blood’s ability to clot.