Haemophilia is an inherited bleeding disorder that impairs the body's ability to make clots. If you're suffering from haemophilia, you may bleed for a longer time which calls for special attention. Haemophilia is a deficiency of clotting factors that result in prolonged bleeding. In such cases, it is important to take necessary precautions. On this World Haemophilia Day, we are speaking to eminent doctors and Haematologists to create awareness about haemophilia disorders and their necessary precautionary measures.

Dr. Shweta Bansal is a Consultant Pediatric Hemato Oncologist and BMT Physician at Sir H N Reliance Foundation Hospital and Research Centre. She has been an active member of the Pediatric Hemato-Oncology Society of India and has served as its treasurer for 4 years. Recently she has been appointed as an ethics committee member of the prestigious Indian Council of Medical Research. She has also served as an editor in chief and assistant editor at various PubMed indexed journals including the South Asian Journal of Cancer, Pediatric haematology-oncology Journal. She has received accolades for her work and presentations at national and international conferences including St Jude Viva, 2010 and SIOP, 2008. She has been felicitated by the Society of Oncology, Patna for her outstanding work in the field of Pediatric Oncology in 2010. 

Haemophilia and its variants

Dr. Shweta explains, “haemophilia is a bleeding disorder in which the blood doesn't clot. In our body, the blood remains in the fluid form or in the flowing stage, because it has to carry a lot of nutrients and oxygen to various tissues of the body. Whenever the vessel has a breach or any injury, the blood starts coming out of it. Here the process of clotting happens. Our body wants to save each and every drop of blood. So, the various processes, mechanisms, and factors which are present in the blood, come into play and they prevent the blood from getting out from the vessel so as to avoid wastage of the blood. This process is known as a clotting process. Haemophilia is a specific disorder in which there is a deficiency of particular factors. There are two types of haemophilia, Haemophilia A and Haemophilia B. Haemophilia A is the deficiency of factor VIII and Haemophilia B is the deficiency of factor IX,” says Dr. Shweta.

Circumcision is the major presenting symptom of haemophilia

Dr. Shweta elaborates, “The signs and symptoms of haemophilia can vary from person to person. Haemophilia can be categorized depending upon their percentage of clotting factor into Mild haemophilia – clotting factor 5-50%, Moderate haemophilia – clotting factor 1-5%, and Severe haemophilia - <1%. The normal quantity of the clotting factor in a person's body ranges from 50% to 150%. Severe haemophilia is marked by spontaneous bleeding, these patients can bleed anytime. Mostly they have bleeding in their joints, deep tissues or they can have GI bleeding. If a child has haemophilia and undergoes circumcision at an early age, the child may bleed significantly. Intracranial bleed happens in only 1 - 2% of the patients. Circumcision is the major presenting symptom of these patients. So, any abnormal bleeding, if you see in a child, then that needs an investigation. And from that investigation, we can diagnose whether the patient is having the clotting factor deficiency or some other problem,” adds Dr. Shweta.  

Haemophilia is seen mostly in boys

Dr. Shweta mentions, “It mainly happens in boys. Because this is an X-linked recessive disease, it means that the X chromosome carries this abnormal gene. Females have 2X chromosomes. So, if the 1X chromosome is not working properly, the second X chromosome takes over. And that's why females don't have this disorder unless they have disorders like Turner Syndrome, where there is only one X chromosome present. While boys have only 1X chromosome and the other is the Y chromosome. So, if there is any abnormality in the single X chromosome, they manifest this disorder.”

Simple tests to detect haemophilia

Dr. Shweta describes, “hemophilia diagnosis is not very difficult, tests are easily available. So firstly, any child who is having a bleeding abnormality, means that he's bleeding more than any normal child, then this needs to be investigated. We do bleeding scoring for these patients. We take a proper family history of these patients. So, if you take the history, mostly the mother maternal uncles, are affected with it. From that, you can make out this is an excellent recessive disease disorder. Secondly, we need to see the severity of the bleeding. And third is performing blood tests. Blood tests like Complete blood count, Prothrombin time, Activated Prothrombin Plastin time (APTT), and a Fibrinogen test. An abnormal APTT signifies factor deficiency. If APTT comes prolonged, we mix it with the normal plasma of the person and if it gets normalized completely, that means there is a factor deficiency. After this we perform another test to check factor level, from this we get to know whether it is mild, moderate, or severe haemophilia.”

Diagnosis of haemophilia is very important to get treated

Dr. Shweta informs, “Severity of the disease depends on the percentage of the clotting factor which is present. If you have less than 1% of the clotting factor in your body, it can be very severe, the person can lead to death also. They can have bleeding in their joints, deep tissues, gastrointestinal tract, or intracranial bleeding also. So, they can have bleeding anywhere in the body. While in the cases of mild and moderate haemophilia, they don't bleed spontaneously. They bleed only if there is some injury or surgeries done to them. Diagnosing haemophilia is very important and treatment is also easy. We can do a replacement factor for these patients and can prevent severe bleeding.”

(Edited by Renu Gupta)