“Show your awareness for bleeding disorders”
Each year in the month of April, dated 17th, World Haemophilia day is observed. Sponsored by World Federation of Haemophilia, the idea of celebration of this day started in the year 1989. Since then, every year World Haemophilia Day is celebrated worldwide.
This day mainly focusses on increasing the awareness and care of Haemophilia and other genetically bleeding diseases. The knowledge of Haemophilia and awareness about its cause, source, and impact on human body etc is very important to know.
Specially the new generation, where there are many Haemophilic patients and most of them are not even aware of it. Haemophilia, being a genetic disorder does not show symptoms.
What is Haemophilia?
Scientifically speaking, Haemophilia is an X- linked recessive disease. X linked means it is passed on from the X chromosome in human beings or we can say that the ‘gene’ which causes Haemophilia is location on the X chromosome. Recessive disease means that it is not present in every occurring generation in a family, making Haemophilia a very rare disease.
What exactly happens in Haemophilia is that it does not allow the body to make clots, which are necessary to stop any bleeding caused by an injury or trauma. Also, known as the ‘Bleeder’s disease, Haemophilia was first observed in Queen Victoria and from there on, it spread to all over the world.
As the body is unable to form a clot on a wound, people with this disease generally end up bleeding for a longer time and even a small cut requires extensive medical attention, sometimes a stitch too. Such people also get bruised or wounded very easily than the normal people.
There are two cases of this disease, Mild cases and severe cases. People having a mild case of Haemophilia bleed for prolonged time after an injury or an accident and their bleeding can be stopped by stitching the wound. In severe cases of Haemophilia, internal bleeding can occur.
Bleeding can occur in joints and brain which can result in permanent damage of that particular organ and can also even result into death of the person.
Haemophilia is mostly common in males. The reason being only the presence of one X chromosome in males (remember, males are XY). Females are less affected by Haemophilia because they have two X chromosomes (females are XX). So, even if one X chromosome carries the gene which causes Haemophilia, other one is healthy as it does not carry the disease causing gene.
Such females who have one X chromosome (among the two which are already present) which carries the disease-causing gene, are called as ‘carriers’. It means, they carry the disease from one to the next generation without themselves being affected with it. Thus, for a woman to be diseases, she needs both of her X chromosome to carry the disease causing gene, which is very rare.
Based on the absence of particular clotting factors, Haemophilia can be divided into two types: Haemophilia A and Haemophilia B. Human blood has a total of 12 blood clotting factors which are represented by roman numerals. I, II, II, IV, V, VII, VIII, IX, X, XI, XII, and XIII.
There is no VI (6th) clotting factor discovered till now. The clotting factors are namely (in the increasing order of the roman numbers assigned): Fibrinogen, Prothrombin, Tissue Thromboplastin, Calcium ions, Labile Factor, Stable factor, Anti Haemophilic factor, Plasma thromboplastin component (also known as PTC or Christmas factor), Stuart- Prower factor, Plasma Thromboplastin antecedent (PTA), Hageman factor and Fibrin stabilizing factor.
Haemophilia A is caused due to the absence or not enough presence of clotting factor VIII (Anti haemophilic factor) and Haemophilia B is caused due to absence or not enough presence of clotting factor IX (Plasma thromboplastin). Two more types of Haemophilia named as Haemophilia C is also evolving which is caused due to absence or not enough presence of clotting factor XI (PTA) and Parahaemophilia which is caused due to absence of or not enough production of clotting factor V (Labile factor).
Haemophilia can also be acquired. It can be associated with pregnancy, cancers and various auto immune disorders (Note: auto immune disease is a disease in which the body’s immune system attacks its own cells thinking them as foreign). Haemophilia can be diagnosed by blood tests and identifying the absence of clotting factors in them. Being a genetic disease, it cannot be cured completely, but the replacement of blood clotting factors when the person is bleeding can be done.
Clotting factors can be made artificially in the laboratories by recombinant methods. Also, whenever a couple is planning to have a child and have cases of haemophilia in their family, they should go with the procedure in which the egg and sperm are fertilised in- vitro, the embryo is tested for the absence of any blood clotting factors and then is implanted inside the woman’s uterus.
As discussed earlier, Haemophilia does not show any symptoms like most other diseases. One can find if a person is Haemophilic or not by tracking down his or her blood clotting time. In severe cases, people also bleed internally and it requires immediate medical attention. Due to internal bleeding, blood can sometimes enter the joint area, also known as ‘joint bleed’.
World Federation of Haemophilia
WFH or World Federation of Haemophilia, is an organisation which educates and makes people aware of this rare genetic disorder, Haemophilia. There are many people worldwide who even don’t know that they are suffering from Haemophilia.
WFH is located in Canada and was founded by Frank Schnabell in 1963. The current president of this organisation is Alain Weill.
This organisation organises World Haemophilia day every year and invites active participation of as many people whether they are haemophilic or non- haemophilic. 1 in 7,500 males are affected with Haemophilia A and 1 in 40,000 males are affected with Haemophilia B.
World Haemophilia Day
Every year a particular theme is decided by World Federation of Haemophilia for the celebration of World Haemophilia day. The theme for 2017 was “Hear their voices”. Each year many people participate in it and various functions, seminars, quiz etc. are organised in schools, colleges, non-governmental organisations.
The main motto is to educate people about Haemophilia, provide better treatment methods and care for Haemophilic people and prolong their lives as far as possible.
What should be our contribution?
Many events, days, seminars are celebrated worldwide, but the main thing is our own contribution. If we do not contribute or do not act, the organisation of various events days etc. go in vain. Being the young generation, we should do the following things:
- Science students study about Haemophilia in their classes. They should try to educate people and introduce the scientific reason behind Haemophilia to the people.
- If you have any person in your school, college or office who is Haemophilic, you should rush that person to the nearby hospital whenever that person gets wounded.
- A list of Haemophilic people should be kept in offices, colleges and schools.
- Donate blood. It is very important as many clotting factors can be extracted from the blood which may help the Haemophilic patients to undergo the treatment of replacement of missing blood clotting factors.
- Medical centres, Hospitals should be having modern facilities that are used for Haemophilic patients worldwide.
- Before marriage, the couple should do all necessary blood tests to find out if they have any genetic disorders or not.
- Haemophilia is curable if preventive measures are taken even before the birth of the baby. The couple who are planning for a baby must go to the doctor, get their pedigree analysis data (where one can find out if their child would be affected by a particular genetic disorder or not based on the occurrence of the genetic disorder in their families).