Hemophelia: the Overview

Merriam Webster defines hemophilia as "a sex-linked hereditary blood defect that occurs almost exclusively in males and is characterized by delayed clotting of the blood and consequent difficulty in controlling hemorrhage even after minor injuries". In plain terms, it is a bleeding disorder where blood doesn't clot normally. This happens due to deficiency of clotting factor, a protein needed for blood clotting. This condition is hereditary and is found mainly in men, although women can be carriers as well. There are two types of hemophilia: A and B. Type A hemophilia exhibits low levels of factor VIII and is more common than hemophilia B. Hemophilia B exhibits low levels of factor IX. To put this in perspective, there are 13 proteins that help blood clot. If one is present at low levels or missing completely a clot will not form. Hemophilia also divides into 3 severity levels: severe, moderate, and mild. Severe hemophiliacs have 0% to 1% factor level, and this is the most predominant form of hemophilia. Moderate hemophiliacs exhibit 1% to 5% factor levels. Mild hemophiliacs have 5% to 10% factor level. These levels are hereditary and will remain the same throughout hemophiliac's lifetime and within a given family tree.

Causes

It should be noted that hemophilia is almost always caused by a genetic defect. The reason that males have a tendency to acquire the disease is due to the fact that it is passed on VIA the X chromosome. Females have 2 X chromosomes. If there is a defect in one, provided the other chromosome is not defective it will cause no problems in the offspring. Unfortunately, males (usually) only have 1 X chromosome, therefore if it is defective they suffer from this disease. Hemophilia can occur in women, but the male must have hemophilia and the female must and least be a carrier. If this occurs, the chance of having a female born with hemophilia is 25%, and the chance of having a male with the defect is 25%. A healthy man who marries a woman that carries the hemophilia gene has a 50% chance that his son with this woman will have hemophilia, and a 50% chance that his daughter will be a carrier of this gene. A hemophiliac who marries a healthy woman will have healthy sons, but his daughters will all carry the hemophilia gene. On a very rare occasion a girl could be born with hemophilia, but for that, the father needs to have hemophilia and the mother carry the defective gene. It is possible to develop hemophilia. Very rarely a mutation in the gene responsible for hemophilia may occur due to extremely poor nutrition (starvation), auto immune diseases, certain cancers, etc.

Signs and Symptoms

Signs include prolonged or non-stop bleeding, painful swollen joints, easily or unexplained bruising, other internal bleeding, and hematoma. Bleeding in the joints may cause severe pain at the time of the bleed. If occurs frequently, such bleeding may cause permanent pain and difficulty in using the affected joint. Another very dangerous bleeding for hemophiliacs is bleeding in the brain. This may cause severe complications and even death if not discovered in time.

Treatments

Most widely used treatment for hemophilia today is called replacement therapy. Hemophiliacs inject a concentration of factor VIII or IX, depending on their deficiency. The factor can be made from human or animal plasma. Though with modern technology the risk of contracting the infectious disease from human blood is small, factor made from animals is safer and is called recombinant. The recombinant factor can be taken on regular basis as preventive measure or it can be taken when a bleeding incident occurs. There are, however, some complications that can occur with this treatment. Hemophiliacs may develop antibodies to the clotting factor. These antibodies attic the recombinant factor preventing it from taking effect. If this occurs, doctors usually prescribe higher dosage of the factor.

The "Royal Disease"

Queen Victoria

Tsarina Alexandra and Alexi

Hemophilia is often called the "royal disease". This is because British monarch Queen Victoria’s descendants we afflicted with this health issue. Many of her sons and grandsons died of bleeding out at a young age; many of her daughters were the carriers of the infected gene. The disease spread throughout Europe as Queen Victoria’s descendants married into the Royal houses of Russia, Spain, and Germany. Russian Tsar Nicholas II married Alix of Hesse, later Alexandra Feodorovna Romanova, the granddaughter of Queen Victoria. Nicholas and Alexandra had a son, Alexei, who had Hemophilia B. Alexi bled often, and his frail condition played a significant role in Russian Revolution.

Living with Hemophilia

Nikolay Parvenov

My mother-in-law with her father and brother the year he died

My wife's family moved to the United States from Russia 10 years ago. Her younger brother has hemophilia A in severe form. My mother-in-law often says that his blood is like water. He wasn't diagnosed with hemophilia until he was a year old when he started having severe bruising on his knees. My mother-in-law's father had sever hemophilia A as well, and as it should happen, she carried the faulty gene giving it to my wife's brother. My mother-in-law's father died from bleeding out when she was 6 years old at the age of 35. He was a middle school teacher, a kind and gentle man. He was very strong, but could not use much of his strength due to the fear of his blood vessels rupturing. Once, my mother-in-law often reminisces, he hit an oak table with his fist and the table broke in half. He had severe joint pains in his knees, as the treatment for hemophilia was, and still is, scarce. He bled often into his knees. The only thing you could do to treat hemophilia at that time was blood transfusions if a severe bleed occurred. He died because he lifted a heavy log which caused a severe internal bleeding. My wife's family lived in a small town at the time and the blood for the transfusion needed to be brought over from a bigger city three hours away. The doctor told my mother-in-law's mother that she shouldn't go to bring it over because she won't get back in time anyway. For my wife's brother, who was born 30 years later, the situation did not get much better.

Living with Hemophilia

Nikolay(right) with his Airsoft team

When my wife's brother was born, there already was recombinant that he could take. However, it costs $3000 a shot. For a poor family this is unthinkable amount of money especially if the exchange rate is something like 32 rubles for a dollar and an average monthly income is $450. My wife's brother, Nikolay named after his grand father, wore knee pads sown by my mother-in-law since he was one. Nikolay's parents lived in constant fear that he might get injured and bleed out. Especially dangerous were the winters. There is no salt put on the roads in the winter in Russia, therefore, if Nikolay slipped and fell it could cause him to end up in a hospital or even worse. Once, he slipped and bit his top lip very hard. He kept bleeding and, while during the day his parents could watch him and wipe off the blood, at night he bled uncontrollably. Every morning he woke up with his lips black from blood. In a few days he was hospitalized. He was in the hospital for 10 days getting blood transfusions, but without recombinant factor it was difficult to stop the bleeding. When the bleeding had stopped, he was released, but as soon as he got home, he smiled and the bleed opened again. He was in and out of the hospital three times in the next two months. The bleed kept opening up and blood transfusions were not helping. The cut on his lip was tiny, but it could very well cause him to bleed out and die. Finally, my father-in-law spoke to the doctor himself, and Nikolay got stitches to stop the wound from opening up again. Finally, when Nick was 7, my wife's family moved to the United States where Nikolay receives the preventive recombinant treatment. My mother-in-law gives Nikolay infusions of factor VIII 3 times a week, allowing him to have an almost normal life. He is not permitted to play what they call "contact" sports i.e. football, basketball, etc., so he plays Airsoft with his friends. Airsoft is similar to paintball only with bee bees. Nick and his team win many of their battles. Unfortunately, Nick had developed antibodies to factor when he was 9. The doctors increased his dosage and it seemed to have helped the problem. Another worry my parents-in-law have is Nick's weight. His weight puts too much pressure on his vessels and joints, which can cause an internal bleeding that is very hard to detect.