1 year old boy from Muzaffarpur district of Bihar came to the emergency department of Paras Patna complaining of excessive bleeding from the lower lip. His family shared that the excessive bleeding was following a minor trauma 2 days back. He had a history of excessive bleeding following minor falls in the past. His maternal uncle and one of his brothers had similar bleeding manifestations. His sisters were normal and never complained of such issues. He was admitted and the investigations that clotting Factor 8 was less than 1 % n his blood. He was immediately transfused with clotting factor 8 concentrate and the bleeding stopped within hours, following which the child was discharged the same day.
Haemophilia is an inherited disease with x linked inheritance and mostly males are affected. One third of haemophilia patients may not have family members suffering from haemophilia.
Females born from haemophilic fathers are carriers of the disease, as they have 2 x chromosome. Since the disease does not present itself in women in the form of signs and symptoms, majority don’t even come to know that they are carriers. Lack of prenatal counseling further complicates the issue and boys are usually born with the disease.
There are two types of Haemophilia – A(Factor 8 Deficiency) and B (Factor 9 Deficiency). Haemophilia A is more common than Hemophilia B. They commonly present with spontaneous bleeding or bleeding following minor trauma. Internal bleeding like joi t bleeds are a characteristic feature of such patients. In case of recurrent joint bleeding, joint becomes fixed and patients can’t walk or run properly and hence become disabled.
India has about 1.2 lakhs patients of hemophilia and on average 1675 patients get added every year. Only about one third of cases receive some treatment, the rest remain undiagnosed or receive wrong treatment and suffer. We can prevent hemophilia if prenatal detection for hemophilia is done in all pregnant carriers of hemophilia.
It is important to create awareness about hemophilia in our society, so that timely diagnosis and management can prevent morbidity and mortality.