Haemophilia– The Royal DiseaseWhatis Haemophilia?Hemophiliais the most notorious of all sex linked diseases and is characterized
bydefects in the blood-
clotting process. This disease causes abnormal
bleeding and ismore common in men than women. It is also known as “Royal Disease” or“Bleeder’s Disease” which was reported by John Otto in 1803 for the first time.Haemophilia – The Royal DiseaseHemophilia cases have been reported from ancient times. Prince Alfonsoof Spain was known to be afflicted with it, and a minor automobile accident inthe US was enough to kill him. This also brought back into public knowledge thereports of other untimely deaths in various European Royal families. It appearsthat a gene for the disease arose in a reproductive cell which bore QueenVictoria, of England. It was passed on to her son and 2 daughters, and itspread to other royal families of Europe through inter-marriages between them.The Chromosomal BasisWhy does Haemophiliaoccur exclusively in males? Itis seen that Haemophilia is an X linked recessive trait. This trait in male andfemale sexes produces distinctive inheritance patterns in the offspring. Allmales who carry the allele express it, while the females do not unless they arehomozygous. Thus these rare X linked recessive traits are found almost exclusivelyin males. Hemophilia occurs in males because they have only a single Xchromosome and a single copy of the clotting factor gene. One in four thousandmales suffer from it. Females are the only carriers of Haemophilia.What are the Causes? Themain cause of Haemophilia lies in the eggs or sperms which have a defective Xchromosome (which carries the gene for Haemophilia). If the father has thedefective X chromosome sperm, then all his sons do not have this diseaseas they are conceived by his Y chromosome sperms, but all his daughters will bethe carriers of the disease because they have been conceived by his defective Xchromosome Sperms. If a female carrier mates with a normal male, then sheproduces sons and daughters, half of whom will be carriers. SymptomsThe symptoms generally depend upon the degree of clotting factordeficiency.The primary symptom of this disease is an abnormal tendency of bloodwhich shows an extremely slow rate of coagulation. In normal individuals theblood from a ruptured vessel coagulates in 2 to 8 minutes but in hemophiliacsthe coagulation time is greatly prolonged and varies from an hour to 22 hoursor more. As a result of small injury the bleeding may continue for hours. Excessivebleeding may be fatal.Typesof HaemophiliaIt is normally observed thatclotting is defective in Haemophilia. HaemophiliaA-- known as classic Haemophilia or factor VIII deficiencyHaemophiliaB ---Christmas disease or factor IX deficiency ·HaemophiliaA- About 85 percent ofpeople suffer from this disease.. It is due to the deficiency of a plasmaprotein called Factor VIII, which helps in blood coagulation. If the deficiencyis more, the symptoms are more severe.·Haemophilia B- Occurs from a deficiencyof Factor IX a different plasma protein which helps the blood to coagulate.Haemophilia B can be mild, moderate or severe. It is also called Christmas disease.Haemophilia can be classifiedas severe, mild or moderate and this will depend on the amount of clottingfactors present inside a person’s body.Severe Haemophilia: Incase of severe Haemophilia, bleeding starts inside the body for no reason. Aperson will have less than 1% of the normal amount of clotting factor VIII orIX.Mild: A person willhave bleeding problem when he has injured himself very badly or has undergonesome surgery.Moderate: A person withmoderate hemophilia will have the above mentioned problems and certain bleedingproblems due to minor injuries also. The complications which arisein a haemophilic patient are bleeding inside their body, joints like elbows,Knees, ankle etc. These joints become painful and swollen due to repeated internalbleeding which leads to chronic joint diseases like “Arthropathy” .If thebleeding takes place inside the brain or abdomen then there is danger to aperson’s life also. The blood clots are formedinside the body when certain blood vessels are damaged and as a result bloodleaks out of the vascular system and into the tissues which surround it. Inorder to minimize this blood loss and damage to the surrounding tissues certainclotting factors (a large number of different proteins present in the blood)and platelets interact at the place of the blood vessel damage. They seal thisblood vessel by forming a plug of clotted blood or solidified bloodTreatmentThere is no such cure for this disease .The bleeding stops in haemophilicpatients by giving them an injection of the clotting factor which is missing intheir blood. It is advisable for them to visit a haemophilic clinic regularlyfor medical advice..