Hemophilia, a 4-year-old boy with a blood clotting disorder, has 3 cerebral hemorrhages

4 years old but 3 times of cerebral hemorrhage because of Hemophilia

Patient’s boy (4 years old, Hai Phong) was diagnosed with hemophilia from 15 days old.

According to Ms. Th, her mother shared that right after giving birth, her family discovered that her baby had swelling on one side of the top of her head. When the child was 15 days old, the swelling on the top of his head did not improve, the family decided to take him to the local hospital and then the National Children’s Hospital for examination. The doctor diagnosed the child with hemophilia.

“When the doctor announced that my son had hemophilia, my wife and I were extremely confused, we could only hug each other and cry. Since then, she has often suffered from pain in her arms and legs and had two cerebral hemorrhages when she was 16 months old and 2 years old.

Every 2 months, my wife and I take turns taking our son to the hospital for a blood transfusion,” shared Ms.

Recently, the patient was admitted to the National Children’s Hospital with a fever of 38 degrees 5, abdominal pain, vomiting. After performing clinical tests and CT scan of the brain, he was diagnosed with cerebral hemorrhage on the background of a patient with hemophilia.

“My child at home had abdominal pain, vomiting, no headache, according to the mother’s hunch, I thought he had an abnormality, so I decided to take him to the doctor right away. Luckily, I was treated by doctors in a timely manner,” said Ms.

According to Ms. Th, her maternal family also includes her biological brother and sister’s son, both of whom were diagnosed with hemophilia.

What is hemophilia?

Dr. Nguyen Mai Huong, Head of Clinical Hematology Department (National Hospital of Pediatrics), said that hemophilia (also known as hemophilia) is an inherited blood clotting disorder caused by decreased or Abnormal function of clotting factor VIII/IX in the chain of 12 clotting factors.

Hemophilia is a very dangerous disease. People with hemophilia often have bleeding that is difficult to stop anywhere on the body, especially bleeding in joints and muscles. The majority of people infected with the disease are men, with an incidence of 1 in 10,000 newborn boys born with the disease.

According to Dr. Huong, the symptom of hemophilia is bleeding, which usually appears when children start to learn to stand and learn to walk. After a fall or collision when learning to walk, there is often bleeding under the skin or bleeding from the lips and tongue. .

In children 2-3 years old, bleeding in the joints is common with painful swelling, reduced movement of the limbs or leaving the sequelae of muscle and joint atrophy because of repeated recurrences, fibrosis, the joints or bleeding are neck joints. legs, knees, elbows.

The muscles that bleed most often are the calf, thigh, and arm muscles; in which lumbosacral forearm bleeding is common.

“If not treated promptly, children can experience complications such as muscle atrophy, stiffness, joint deformity leading to permanent disability. When bleeding in dangerous locations such as the brain, neck, mouth …, if If the bleeding is not stopped in time, the patient may die,” said Dr. Huong.

People with hemophilia can bleed even without trauma, or bleed for a long time after trauma or surgery. Photo: Internet source

Why does hemophilia occur almost exclusively in boys?

Explaining this, Dr. Huong said that the gene that produces clotting factors is located only on the X chromosome and is inherited.

Males (who have XY chromosomes) when receiving X disease from their mothers will definitely manifest the disease. Females (set of XX chromosomes) only manifest the disease when both of these chromosomes are faulty, meaning that both parents carry the disease gene.

If the girl has only one X-chromosome, the disease will not manifest but can still be passed on to her baby. Therefore, hemophilia is almost exclusively seen in men, while women are rarely affected because the probability that both parents carry the disease gene is very low.

“If someone in the family has hemophilia, parents need to be fully aware of the disease and should go to the doctor for counseling and screening for genetic diseases before marriage and before having children.

Just by doing a gene test to diagnose disease genes, it is possible to choose for the next generation to be born healthy. However, not all patients know this, “said Dr. Huong.