Hemophilia – the ‘rich’ disease is usually passed on to boys

Hemophilia is often transmitted by the mother to her son, the treatment cost can reach billions of VND per year.

Patient Phan Huu Nghiem has just been discharged from Cho Ray hospital after 11 years of treatment, who has severe hemophilia A disease. He underwent 26 operations due to infection wound necrosis of the hip, thigh, right abdomen, stemming from a hematoma after a river bath fell on the side of the boat. This is the patient with the largest amount of hospital fees in the hospital with about 40.8 billion VND, the medical insurance of 38.3 billion VND.

Ms. Tran Thi Mai, Mr. Nghiem’s ​​mother, said that her maternal grandfather gave birth to many sons but they could not live long because it was difficult to stop bleeding when injured, at that time there was no cure. Her mother has 6 sons, of which three died prematurely from the disease. Mai and her husband have two sons, Nghiem is ill and her brother is healthy.

Doctor Nguyen Thi Hong Hoa, Ho Chi Minh City Blood Transfusion Hospital, said the disease is divided into two types: Hemophilia A (lack of clotting factor 8) and Hemophilia B (lack of clotting factor 9). The disease is relatively rare, the rate of disease at birth is 1 / 10,000, patients often bleed longer than usual.

According to Dr. Hoa, people with Hemophilia disease from birth due to receiving disease genes from parents. However, about 30% of patients do not have a family history. These cases are thought to be caused by a normal genetic mutation that turns into a disease gene, and the disease gene is still passed on to the next generation.

Doctor Hoa analyzed, if the father is sick and the mother is not, all boys are not sick and all girls carry the disease gene. If the mother carries the disease gene, the normal father is born with 50% rate of hemophilia (if the boy) and 50% of the disease (if the girl is a girl). “A daughter only gets sick when her father is sick and her mother carries the gene. This situation is very rare in fact,” said Dr. Hoa.

This is because the gene that produces the coagulation factor is located only on the X sex chromosome. Men (with the XY set of chromosomes), when receiving X from their mother, will definitely manifest the disease. And women (XX chromosome) only manifest as disease when both of these chromosomes are malfunctioning, meaning that both parents carry the disease gene. If the baby girl only contains a sick X chromosome, it will not manifest in appearance but can still pass on to her baby. Therefore, hemophilia is found almost exclusively in men.

Genetic ability father is not sick, mother carries the disease gene (left), and when dad is sick, mother is not sick (right). Image: Health Jade.

“Hemophilia A and B have similar clinical manifestations, including a large bruise on the skin, bleeding in the muscles or joints, usually the knee, elbow, and ankle, causing pain, swelling, and difficulty moving the joint. “, said Dr. Hoa. Patients easily bleed long after cuts, tooth extraction, surgery, accidents, especially head injuries. More severe, the patient can bleed from the abdomen, internal organs, even in the brain, which can be life-threatening.

Normally, the human clotting factor is between 50 and 150%. Depending on this concentration, Hemophilia is divided into three levels. In mild form (5-30%), patients usually do not bleed, unless surgery or the wound is severe. Moderate (1-5%), patients bleeding after surgery, severe wounds, tooth extraction, often bleeding about times per month, rarely bleeding without reason. With a moderate body (less than 1%), patients bleed in the muscles, joints in the knees, elbows, ankles, often bleeding 1-2 times per week, bleeding without reason.

Doctor Hoa shared that although there is no cure for hemophilia in medicine, with current treatment, patients can still live and live and work normally. Patients need to add the missing clotting factors as soon as possible to minimize long-term complications such as joint deformity, muscle atrophy … Untreated disease can lead to disability and death. .

When there are manifestations of bleeding, the patient needs to be quickly injected with coagulation factor. This will help relieve pain and reduce damage to muscles, joints and organs. In addition, the patient must also be treated before surgery, including tooth extraction and activities that may cause bleeding.

This is an expensive medical condition, so it is often referred to as “the rich” disease. Each injection of products containing clotting factor can cost several tens of million dong in blood. If hospitalization is long and complicated, patients can spend 1-2 billion VND per session. Since October 2005, health insurance has begun to cover costs, giving patients the opportunity to access treatment. At present, almost all of the coagulation factor preparations for disease treatment are available in Vietnam and are covered by insurance.

Dr. Nguyen Phuong Lien, deputy director of Ho Chi Minh City Hematology Blood Transfusion Hospital, said the hospital is treating about 400 patients. Severe patients usually need to be hospitalized every one to two weeks. “If there is health insurance, the patient costs an average of about a million a time”, Dr. Lien shared. Surgery or inhibitors require more money.

The Department of Hematology, Cho Ray Hospital is also treating nearly 300 patients with this disease, most of which are severe diseases. It is estimated that nationwide there are about 6,700 cases of patients under management, of which, health facilities directly monitor 3,490 cases, the rest of mild-type patients take care of themselves at home, when there is an incident, they need to be hospitalized. .

The whole country currently has only a few end-level units to use blood clotting factor 8 drugs, including the Central Institute of Hematology – Blood Transfusion, Bach Mai, Central Pediatric, Hue Central, Cho Ray, City HCM, Children 1, Children 2, Hematology Can Tho Blood Transfusion.

According to Dr. Pham Thanh Viet, Head of General Planning Department, Cho Ray Hospital, the drug must be injected at a medical facility, by someone with professional qualifications and indications on dosage, not all establishments. Qualifications are provided.

The Ministry of Health is considering and approving the use of preventive drugs more widely in health facilities across the country, making it easier for patients in localities to access, avoiding progress and serious complications.

Dr. Tran Thanh Tung, Head of the Department of Hematology, Cho Ray Hospital, said that if a patient Nghiem is receiving preventive treatment with coagulants since he was a child, he will not leave such a giant hematoma when falling. .

“It is very important to actively inject blood clotting factor 8 for weekly and monthly prophylaxis in critically ill patients. as heavy as Nghiem patient, “said Dr. Tung. If the prophylaxis is early, the cost for the health insurance to pay is also lower, not too much money for such a patient.

Statistics show that about 40% of people with the disease in the community are undiagnosed and more than 30,000 people carry the disease gene. Before marrying, husband and wife should seek medical advice and screening for genetic diseases. The cases of bleeding difficult to stop or frequent bruising, joint pain should think about this disease.

Infected children need to avoid vigorous exercise that causes trauma. Patients should be examined periodically every 6 months, when injured need to be hospitalized as soon as possible. Absolutely not intramuscular, acupuncture or massage, just use oral or intravenous drugs. Avoid using bleeding medications like aspirin, exercise your muscles and joints to reduce bleeding. Routine dental care according to dentist consultation, always carry patient card and learn how to deal with small wounds at first.

Le Phuong