Hemophilia Essay

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Hemophilia is a rare genetic blood disease characterized by the inability or impairment of blood to clot or coagulate when a blood vessel is broken. This inherited disease is caused by an insufficiency of blood proteins, known as factors, which participate in blood clotting often by sudden gene mutation. Hemophilia can be characterized into three distinct types, including Hemophilia A, Hemophilia B, and Hemophilia C. Biologically, hemophilia is a unique genetic disorder that As a recessive sex-linked disorder, hemophilia is more likely to occur in males than in females. This is explained by females having two X chromosomes, while males have only one, so the defective gene is guaranteed to manifest in any male who carries it. As a result of females having two X chromosomes in their genetic makeup and hemophilia being rare, the chance of a female having two defective copies of the gene is very remote. Females are almost exclusively asymptomatic carriers of the disorder, meaning that they display no symptoms of hemophilia, but have the ability to carry the disease to their offspring. A mother whom is an asymptomatic carrier of hemophilia has a 50% chance of passing the faulty X chromosome to her daughter, and an affected father will always pass down the defective gene to his daughters (a son cannot inherit the defective gene from his father). The pattern of inheritance of hemophilia can be described as a criss-cross type, which is also seen in color blindness (another genetic disorder). With all genetic disorders, including hemophilia, it is possible for a human to acquire it spontaneously as a result of gene mutation, which is defined as a change of the nucleotide sequence in the genome of an organism. Mutations that result in hemo... ... middle of paper ... ...The historical scientific discoveries surrounding hemophilia largely contribute to modern understandings and treatment of the disease. Hemophilia was also historically coined the ‘royal disease’ due to its prominence in European royalty. Queen Victoria of England (r. 1837-1901) passed down the mutation of Hemophilia B to her son Leopold, and through several of her daughters, the gene mutation was passed to various royals across the continent. The influence of hemophilia eventually spread to royal families in Spain, Germany, and Russia. In Russia, Tsar Nicholas II (r. 1894-1917) had a hemophiliac son that claimed to be treated by the controversial figure and friend of the royal family, Grigori Rasputin. The possession of hemophilia in European royalty suggests that this genetic disorder can affect any human, their ethnicity and social status being irrelevant.

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