Hemophilia is an inherited disease that is likely to affect males. It is well-known throughout the history as the most dreadful sickness that prevented normal blood clotting. As a result, diseased people could bleed for hours or even days as they lack a necessary clotting component in their blood. The responsible gene is transmitted in the X chromosome, and this makes males more subjected to the disease. They inherit only one X chromosome, so if it contains mutated gene, it means that a person will surely have the disease. Females have a second X chromosome, and it is usually normal. Therefore, they are capable of passing the disease without knowing that they carry the deficient gene. The cases of females who have hemophilia is very rare.
The mechanism of the disease transmission is pretty simple. Every cell in the human body contains such structures as chromosomes. They are composed of a chain of chemicals also known as DNA. Every person has its own DNA code which is composed of genes, responsible for everything in the body, from organ formation to color of eyes. Every cell has 46 chromosomes arranged into 23 pairs, and one of these pairs is responsible for sex. It determines who a person is: female or male. The pair of XX chromosomes belongs to females, while XY - to males. While conceiving a child, mother always contributes X chromosome, therefore a child’s sex depends on a father.
If a father has deficient X chromosome, but a mother has normal chromosomes, their daughters will be obligate carriers of hemophilia. Their sons will avoid being diseased. If a mother has deficient gene in her X chromosome, while a father has a normal set of chromosomes, their daughters may be carriers of the disease, if they inherit mother’s deficient chromosome, but their son has 50% possibility of being diseased. The carriers of hemophilia are almost always protected against the disease, as another normal X chromosome produces the necessary amount of clotting factor. However, in some cases, like X-inactivation, levels of blood clotting of carriers may be also significantly lower than that of normal people (“Heredity of Hemophilia,” n.d.).
The main signs and symptoms of hemophilia depend on the level of blood clotting. Some people with low level have bleedings as a result of trauma or surgery. In this case, medical workers use special medication that helps avoiding excess blood loss. However, if the reduction of the blood clotting level is severe, a person may have sporadic and spontaneous bleedings. Sudden pain and large bruises reflect inner bleedings that sometimes are even more dangerous than the outer ones. Diseased people usually have a headache, repeated vomiting and extreme fatigue. They are easily irritated and have double vision (“Hemophilia,” n.d.).
Undoubtedly, hemophilia has an impact on the quality of life. People with the disease should be always aware of the risks, cautious about possible traumas and, in case of emergency, be quickly transferred to resuscitation. Unexpected bleedings and pains do not add comfort to anybody’s life. However, the disease is quite rare and affects all racial groups equally. It is divided into two types: hemophilia A and B according to the level of blood clotting. A-type is less dangerous, and 1 in 10,000 people in born with this diagnoses. B-type is more severe, but rare – 1 in 50,000 is born with this diagnosis. The life expectancy of the sick people depends on the treatment that they get. If no proper treatment is applied, people may die before their adulthood. However, modern medication allows sick people live their life 10 years less than those who do not have the disease. If treatment is applied in early age, children can have normal life expectancy (“Frequently Asked Questions,” n.d.).
References
Frequently Asked Questions. (n.d.). World Federation of Hemophilia. Retrieved from http://www.wfh.org/en/page.aspx?pid=637#Life_expectancy
Hemophilia. (n.d.). Mayo Clinic. Retrieved from http://www.mayoclinic.org/diseases-conditions/hemophilia/basics/symptoms/con-20029824
Heredity of Hemophilia. (n.d.). Canadian Hemophilia Society. Retrieved from http://www.hemophilia.ca/en/bleeding-disorders/hemophilia-a-and-b/heredity-of-hemophilia/
