Ever wondered what if an insignificant cut or a bruise, while playing your favorite sport, cooking, or a minor accident, becomes a threat to your life? It is a reality for people who suffer from hemophilia. To know more read on…
Hemophilia is a blood clotting disorder in which the blood does not clot easily and properly leading to excessive bleeding. Hence, in case of a minor injury or wound, a large quantity of blood is lost from the body, which can be fatal. A person suffering from bleeder’s disease, when injured, bleeds for a longer duration than a normal healthy individual. Bleeding, if occurs internally, is a life-threatening condition, which can lead to tissue and organ damage. Let us know a few facts about this disorder, which are categorized below for a better understanding.
- The name hemophilia is derived from the Greek words, haima meaning blood, and philia meaning love. The word essentially means “blood loving”, which indicates love for his/her blood by a hemophiliac, as a little cut or bruise could result in the loss of a large quantity of blood.
- There are 12 types of clotting factors in the blood, named in Roman numerals from I-XIII (factor VI was later omitted from the list) of a normal, healthy human. However, in case of a hemophiliac, the blood sample shows lack, or complete absence of these clotting factors.
- In general, there are three types of hemophilia, diagnosed till now – hemophilia A, hemophilia B, and hemophilia C.
- Hemophilia A is caused due to complete absence or lack of blood clotting factor VIII. About 80% hemophilia cases are of type A nature.
- Hemophilia B is caused due to complete absence or lack of blood clotting factor IX, which is a rare case. About 30% cases are of type B nature. It is also called Christmas disease, which is named after the first person diagnosed with this disease.
- Hemophilia C is caused due to lack or absence of factor XI, and is the most rare type.
- Hemophilia A and B affects the male population, and females are mere carriers of it. However, hemophilia C affects both males and females equally.
- In addition, the condition of hemophilia can be classified as mild, moderate, or severe, based on the amount of clotting factor present in the blood. It is estimated that about 60 – 70 percent cases are severe. Those with mild or moderate hemophilia bleed spontaneously only after a trauma or surgery, whereas, those with severe conditions bleed spontaneously with minimal trauma, or even no apparent injury.
- The average lifespan of a hemophiliac was about 11 years until 1960 as proper knowledge and medication were not available. However, hemophiliacs born after 1985 have shown an average lifespan of 50-60 years with new age medical advancements.
- Hemophilia is a genetic disorder, inherited from the parental genes. It means a person having a history of hemophilia in the family is at a greater risk of suffering from this disorder than someone who has no family history of this disorder.
- The gene for hemophilia lies on the X chromosome, and it is of recessive nature. It means its effect can be masked by a dominant gene.
- It is a well-known fact that the sex chromosomes of a female consists of XX chromosome and that of a male consists of XY chromosome. Hence, when a female is born she acquires one X chromosome from both parents, and when a male is born, he acquires X chromosome from the mother, and Y chromosome from the father.
- If the defective gene is present on the X chromosome of the mother, it will surely be manifested by the son as it is the only X chromosome he gets. However, a girl will not manifest it as she gets another X chromosome from her father, which will mask the effects of the defective gene (gene for hemophilia is recessive). But since the gene is present on one of the X chromosomes of the girl child, she will be a carrier of the hemophilia gene.
- It also means that a son born to a hemophiliac mother has 50% chances of acquiring this disorder.
- If the defective gene is present only on the X chromosome of the father, it will not effect either of the child, however the girl child will be a carrier of the defective gene.
- If the hemophilia gene is present on the X chromosome of both the parents, and if both the X chromosomes inherited by the girl (remember the mother has two X chromosomes.) have the defective gene, the female child will manifest the disease too. This is a very rare case.
- Though hemophilia is considered to be a genetic disorder, it can occur due to spontaneous mutation in the gene responsible for clotting factors. It means, a person with no history of hemophilia in his/her family can also suffer from this.
- It has been recorded, that 30% babies born with hemophilia have no family history of this disorder.
- A person can also acquire this condition as a side effect of certain drugs and medication, or even due to deficiency of vitamin K.
Facts about Treatment
- Unfortunately, there is no absolute cure for hemophilia as its root is at the genetic level.
- It is treated by injecting the missing clotting factor concentrate in the patient, in case of an injury or cut.
- Desmopressin can be used, which releases the clotting factors at the site of the injury, helping to clot the blood.
- Precautions should be taken, and scenes of accidents and injuries should be avoided to minimize blood loss.
AIDS and Hemophilia
- Frequent blood and serum transfusions increase the chances of contracting AIDS and other diseases like hepatitis, in case the blood of the donor is contaminated with the causative virus.
- In the United States, from 1979 to 1984, 90% of hemophiliacs who underwent blood transfusion contracted AIDS, as during that time the blood was not screened for HIV.
- Ryan White was a young boy from Indiana, who was given blood clotting factor VIII which proved to be contaminated with HIV, and was diagnosed with the disease in 1984. He became the face of the HIV/AIDS campaign in the United States, and paved the way for the Ryan White Care Act that provides various services and help to patients dealing with AIDS.
- The Ray brothers, namely Ricky, Robert, and Randy, of Florida, were suffering from hemophilia for which they had a blood transfusion. However, they were diagnosed with AIDS, due to contaminated blood transfusions. The brothers made headlines when their house was burned down, and they were not allowed to attend school as opposed by other parents and neighbors.
Hemophilia and the Royal families
- Queen Victoria, Britain’s royalty, is believed to be a carrier of hemophilia gene due to spontaneous mutation. She passed this defective gene to her two daughters, and a son (who suffered from hemophilia). Since her daughters and their kins were married off to other European royalties of Spain, Germany, and Russia, the disorder spread within them.
- Due to its presence in the royal families of Europe in the 18th and 19th century, hemophilia came to be known as the “Royal Disease”.
Also, an expecting mother can undergo a fetus test to check whether her child has hemophilia or not. Since fetal tests like amniocentesis and chorionic villus sampling are invasive, one can consult a qualified gynecologist about the pros and cons before opting for any test.
From the above-mentioned facts, we can conclude that hemophilia is incurable, the causes for which are not in our control. However, once diagnosed, a hemophiliac can lead a healthy, and a long life by taking certain precautions and care. There are certain foundations and organizations like the National Hemophilia Foundation (based in several states of the U.S.) that provide all services related to this condition.