World Hemophilia Day was recently celebrated in Bangladesh along with the rest of the world. The World Federation of Hemophilia has been celebrating the special day on April 17 every year since 1989 after its establishment in 1963. Its aim is to raise awareness, diagnosis and treatment of hemophilia and other rare blood disorders and to help the underprivileged in the society. Bangladesh Hemophilia Society is a voluntary organization consisting of Hemophilia patients and their family members.
A virtual discussion meeting was organized on this day in joint initiative with Bangladesh Society of Hematology. An awareness discussion program titled ‘Hemophilia and Practical Issues’ was also organized from the Facebook page Hematocare. Also, the day has been celebrated by various organizations in Bangladesh. Still 75% of hemophilia patients worldwide remain undiagnosed, especially in developing countries. It is important to ensure identification facilities for all. Ensuring good medical care for all hemophiliacs is their state right.
Case one: After circumcision of a six-year-old boy, there is no reduction in bleeding. After bringing him from the village to the District Headquarters Hospital, he was given a few bags of blood. Still bleeding. Later he was referred to Dhaka and hemophilia was diagnosed after seeing a hematologist.
Case Two: A boy with hemophilia receives occasional factor eight injections. Both his knees are half capacity. Now the knee is swollen again. But the concern is that the factor is no longer working in his case. The doctor said that he has developed antibodies. Now the treatment required is very expensive which is not affordable for him.
What is Hemophilia: Hemophilia is a special congenital or genetic blood disorder characterized by excessive bleeding. When we cut somewhere in our body, usually after a while the blood clots and the bleeding stops. But bleeding in hemophilia patients continues for a long time. Because there is a deficiency of the special protein (FVIII or FIX) required for blood clotting. The genes for these two factors are on the human X chromosome.
It is known that at the beginning of the 19th century, Queen Victoria of the British royal family was a carrier of the hemophilia gene. His son Leopold had hemophilia. And the princesses Alice and Beatrice were the bearers. It is a hemorrhagic disease that is passed down through generations. Leopold’s mother worried about him and kept him very protective. Still, the boy died of cerebral hemorrhage from a minor blow to the head while playing.
The gene then spread to the royal families of Europe and Russia due to the intermarriage of the queen’s descendants. In 1952, Stephen Christmas of the same British royal family was diagnosed with the same type of hemophilia-B. Hemophilia B is called the Christmas disease after his name. In fact, at that time hemophilia was called a royal disease. Now this disease is seen in all countries of the world.
Who gets it, why it happens: Boys are usually affected, and girls are carriers of the hemophilia gene. Because in the language of science it is called X-linked disease which is passed from generation to generation only through extra chromosomes. Boys have only one X chromosome that comes from the mother. So if the mother carries this defective gene on her X chromosome, her sons may develop hemophilia.
Female children can be carriers. In this case, the blood clotting protein or factor (FVIII or FIX) is much lower than normal due to a genetic defect. So the patient bleeds more and longer. Family history is very important, it is important to know the history of the patient’s own brothers, cousins, maternal uncles, grandparents. However, 25% of cases may have no family history, i.e. may result from a new mutation.
Types and Symptoms of Hemophilia:
There are usually two types. Eg – Haemophilia A : Deficiency of FVIII. Hemophilia B : Deficiency of FIX.
According to the severity of the disease and the level of the factor, they are divided into three groups.
For example: * Mild: factor level >5-40%. They do not have any symptoms. However, if there is a cut or injury, excessive bleeding occurs.
- Medium: factor level 1-5%. Sometimes there is bleeding in muscles, bone joints and other tissues.
- Severe: factor levels < 1%. Excessive bleeding can occur here without any injury. Bleeding in the brain can also occur after birth. In addition to this, muscles, bone joints, especially knees, elbows, ankles, can be swollen and painful. The joint may swell and become hot and cause severe pain. Injury or bruise under the skin, bleeding through the gums can also happen. In severe cases, symptoms appear in infancy.
Apart from this, excessive bleeding can occur due to teething, Sunnat-e-Khatna, any surgery or injury.
Identification: After proper history and symptoms, a blood screening test can suggest that APTT test results are high. After this, hemophilia is determined by doing a specific factor test (Factor VIII or IX Assay). These tests are conducted in various government and private hospitals of the country. Although this identification facility is available in only a few institutions in the country which is insufficient compared to the demand.
Treatment: * Factor injection (FVIII or FIX concentrate replacement)
- Plasma transfusion (Fresh frozen Plasma or cryoprecipitate) * Blood transfusion in particular.
- Identification of inhibitors or antibodies and treatment of complications
First aid at home: * Rest the affected area and keep it elevated if possible. * Holding down the bleeding site. * Quickly give ice or cold water.
IMPORTANT PRECAUTIONS : TO BE OBSERVED BY PATIENTS * Avoid any kind of injury. * Keeping the child safe.
- Do not inject into muscle.
- Taking family history before surgery in boys * Do not take pain medication without doctor’s advice.
- Always keep ice at home.