Hindi Name
Khoon Na Rukna, Adhikaraktasrav, Rakt Ka Band Na Hona, Khoon Ka Band Na Hona
Description
Haemophilia is a disease of the Blood.
The blood coagulation disorder in which the blood fails to clot is Haemophilia. It is a genetic disorder and inability of Blood to clot. It causes impairment to the blood platelets or coagulation mechanism.
What is Coagulation?
As long as blood flows through the body, it is a liquid. The moment we get a cut and the blood comes in contact with air it coagulates, automatically blocking the source of the discharge. This automatic thickening of the blood saves our lives from bleeding to death. In Coagulation Mechanism the protein (fibrin) combines with blood platelets and stops the bleeding. The factor that helps to clot the blood is Factor VIII and Factor IX in the Blood. There is a F8 gene in human body that instructs the Factor VIII to produce a protein for blood clotting. This factor is produced by liver cells and circulates throughout the body via bloodstreams. This protein remains inactive and combines with another factor that is Von Willebrand Factor until the body has a cut. The moment our body has a cut, the Factor VIII becomes active and separates itself from the Von Willebrand factor to combine with Factor IX. The whole process makes a chemical reaction and clots the blood.
What are Platelets and their function?
These are colorless cells without nucleus. The life span of platelets is 5 to 9 days and body regenerates the cells. At the time of cut platelets release a chemical substance and they stick together at the site of ruptured blood vessel. This prevents the flow of blood.
How Haemophilia is an Inherited Disease?
Haemophilia is an inherited disease. It is a result of a faulty gene. Female is the carrier of this disease but it does not develop in females. She passes this disease to her children. To understand this disease you may have to know about the chromosomes.
There are total 23 pairs of chromosomes including two sex chromosomes. Women have XX chromosomes and Men have XY chromosomes.
The faulty gene is located on the X chromosome. Female who inherit Haemophilia is always a carrier. She does not develops this disease as she has two X chromosomes. If one of the X chromosome carries the faulty gene, the other normal chromosome is enough to regulate the coagulation process. In case of a male there is only one X chromosome and other is Y chromosome. If his X chromosome carries the faulty gene, then he will be Haemophiliac.
Lets talk about that how a carrier mother can pass this disease to her children. If a mother is a carrier and father is normal so there is 50% chance that their son will be Haemophiliac and daughter will be carrier.
If mother is normal and father is Haemophiliac, then only girl will be carrier and boy will not be affected. How? Lets see....
Like it is mentioned above that the boy will be affected only if the mother is carrier because she passes X chromosome to her son and he takes Y chromosome from his father. So there is no chance of being a Heaomphiliac if his father is affected. In case of girl, she may gets normal X chromosome from her mother and faulty chromosome from her father. In short Father passes this faulty gene to his daughter and mother passes the disease to her son.
In Haemophilia the blood does not coagulate or harden on coming out of the body. The bleeding does not stop for longer time. This is a life threatening disease.
There are two types of Haemophilia
Haemophilia A
Haemophilia B
Causes of Haemophilia
Gene Mutations
Family History
Lack of Protein (Fibrin) that helps in Clotting
If not treated properly, Haemophilia may cause
Death
Differential Diagnosis
Haemophilia is an inability of the body to clot or coagulate the Blood. Normally when the body is cut the Blood clots or coagulates and the bleeding stops. If a Blood Vessel breaks, the Blood will automatically clot or coagulate and bleeding will stop. Haemophilia is hereditary and passed down from mother to son.
Anemia is a decrease in the Red Blood Cells. The Hemoglobin in the Blood goes down.
Sickel Cell Anemia : When the normal shape of Red Blood Cells become abnormal it is Sickle Cell Anemia.