Hemophilia: Symptoms and Causes

Dr. K.P. Poulose, Principal Consultant General Medicine, SUT Hospital, Pattom

Hemophilia is an inherited bleeding disorder that affects males. This disease is transmitted by women, which causes profuse bleeding following injuries and surgery in males. At the same time, this disease also has the phenomenon that women do not have any symptoms. Women will be the carriers of this disease. The disease is caused by genetic mutation of one of the two ‘X’ chromosomes in females.

When our body gets injured, within a few seconds, blood clots in the cut area and hence stops the flow of blood (clot). Clotting factors are produced in the liver. Bleeding occurs due to lack of sufficient amount of factor viii, factor ix, in the blood. Deficiency of factor viii is called Hemophilia A and a deficiency of factor ix is called Hemophilia B.

Hemophilia is a disease known since ancient times. The Jewish law book ‘Talmud’ states that if the two eldest boys bleed during circumcision, then circumcision should not be done on the boys of coming generations. The disease spread to the European royal families (Russia, Denmark, Norway, Germany, Spain, France) from Queen Victoria, a German who ruled England for 63 years (1838 – 1901). There are no records of Victoria’s ancestors having the disease. Victoria’s youngest son Leopold died of hemophilia at the age of 31. Their two sons died of the disease at the age of 19 and 31, as their youngest daughter, Queen Beatrice of Spain, was a carrier. Prince Alexis, the son of Empress Alexandra (Victoria’s granddaughter) at the time of the Russian Revolution, was granted free entry into the royal palace by his magical powers to control the constant bleeding caused by hemophilia. The boy was among those who died in 1917 after being shot by the revolutionaries. History testifies that the mother of nine children (5 girls and 4 boys), Victoria’s eighth son, two grandsons and six great-grandsons were hemophiliacs and three daughters were carriers.

In 1963, the World Federation of Hemophilia was founded in Montreal (Canada) under the leadership of businessman Frank Schnabel, who was a hemophilia patient. The ‘Haemophilic Society of Kerala’ started in 1987 has branches in many places in Kerala. April 17 is the birthday of Schnabel, who founded the organization ‘World Federation of Hemophilia’. Since 1989, April 17 is observed as ‘World Hemophilia Day’.

It is estimated that there are one lakh hemophilia patients in India. In Kerala, 1250 hemophilia patients are registered with the Hemophilia Society. Hemophilia patients were infected with HIV, Hepatitis B and C due to continuous blood transfusions to stop the bleeding. With the widespread commercialization of genetically engineered Factor viii-ix in 1992, the average life expectancy of hemophiliacs has increased from 11 years in the 1960s to 60 years. One in three patients dies of brain bleeding. Similarly, the amniotic fluid of pregnant women can be checked to see if there is a possibility of the unborn child getting the disease. Pregnant women in families with hemophilia also need counselling. The severity of the disease depends on the deficiency of Factor viii and ix in the blood. Hemophilia A is four times more common than B.

Can hemophilia occur in women? May occur in rare cases. If the father is a hemophiliac and the mother is a carrier, some of the girls born to them may develop hemophilia. Hemophilia in females may due to the presence of two disease-causing X chromosomes.