Nine month old Nishant had just started crawling. It was a delightful experience for his parents. But over the days his mother noticed bruises around his knees. She ignored it initially thinking the baby might have hurt himself trying to explore his surroundings but to her horror they continued to increase in size. When they took him to his pediatrician, he advised certain lab tests which confirmed that Nishant suffered from haemophilia and he had inherited it from his mother who was a ‘carrier’ of the defective gene.
A few statistics
India has approximately one lakh people affected with Haemophilia with an estimated prevalence rate of 1:100,00. Around 14000 are registered patients. Sadly, almost 75% of Indians suffering from the disease cannot afford the treatment costs.
So, what is haemophilia?
It is a rare hereditary bleeding disorder. In India, the incidence of haemophilia is nearly 1 in 5000 males. It has been postulated that in our country 1300 children each year are born with haemophilia. This disease occurs due to deficiency of clotting factors resulting in the blood taking prolonged time to clot.
What exactly happens in the disease?
Every time you hurt yourself and bleed, an army of clotting factors and platelets becomes active in your body trying to seal the wound changing your blood from the liquid to the solid state forming a scab (clot). But, in some people having a low levels of platelets or clotting factors this does not happen and they continue to bleed hence suffering from bleeding disorders like haemophilia.
If there is a family history, an infant will be tested for the same at birth or even before birth.
There may be no symptoms at birth. However, some symptoms like unusual bleeding during teething and vaccination, severe bruising in the joints when the child is learning to walk may be indicators.
Depending on the missing clotting factor, Haemophilia is classified into Hemophilia A or B. The Type A is again classified into mild, moderate or severe based on the % of deficiency of the clotting factor.
In mild cases, you may not be aware of the problem till you have a trauma, dental procedure or surgery when bleeding doesn’t stop or is prolonged.
In moderate or severe cases, there may be spontaneous bleeding, pain and bleeding into the weight bearing joints (especially the knee), bleeding in the muscles, brain, digestive tract or urinary tract.
Can haemophilia be prevented?
If there is a family history of haemophilia, you can test the infant at birth or can even before birth, in the first three months of pregnancy (with Chorionic villous sampling or amniocentesis).
Severe Haemophilia is diagnosed by one year of age and the diagnosis is confirmed after a panel of coagulation profile is conducted on the patient’s blood. Lab results which indicate hemophilia include:
- Normal platelet count
- Normal bleeding time
- Normal prothrombin time (PT)
- Normal thrombin time (TT)
- Prolonged activated thromboplastin time
- Low level of clotting factors VIII or IX
Identify haemophilics in your community and lend them your hand for what they require most is your love and care and they deserve to live!
Image courtesy: www.wfh.org