Let’s know the background of Hemophilia

Hemophilia is a genetic condition where the clotting mechanism is impaired due to a deficiency in clotting factors in the blood. This is an inherited condition, where the disease is transferred to the child from the parents. It is an “X-Linked” condition, and the defect is in the inherited X-chromosome.

Normally, when someone bleeds, clotting factors found in the blood will combine with platelets to form a clot around the cut/wound, and the bleeding stops. However, those with Hemophilia are deficient in these clotting factors and they bleed longer than usual. Although minor injuries can be contained, in someone who has profuse bleeding following a major accident, their outcome can be fatal if they have untreated hemophilia.

Nose bleeds that take a long time to stop,  prolonged bleeding from wounds, bleeding gums, skin that bruises easily, pain and stiffness around joints are symptoms of Hemophilia
Blood tests can be done to diagnose the presence and the severity of Hemophilia. The tests measure how long it takes for your blood to clot, whether your blood has low levels of any clotting factors or if they are absent. If either parent has a family history of Hemophilia, the children must be tested, especially if the child is symptomatic. Those with no known family history usually get diagnosed during major accidents or dental procedures. Incessant bleeding following a tooth extraction, prompts testing for Hemophilia.

Who inherits Hemophila, and what does X-linked mean?
Human sex chromosomes are what determine the genotypic sex of a human being. The definition of gender continues to evolve, as gender is now being defined as what one identifies as, rather than the gender assigned at birth. However, in terms of  gene-linked medical conditions, males are those who carry the XY chromosomes, and females carry the XX chromosomes.  

Nose bleeds that take a long time to stop, prolonged bleeding from wounds, bleeding gums, skin that bruises easily, pain and stiffness around joints are symptoms of Hemophilia

Children inherit one chromosome from each parent. In simple terms, if the mother’s X and the father’s X combine, it would be a girl baby (XX). If the mother X and the father’s Y combine, it would be a boy (XY). 

If a girl baby (XX) happens to inherit an X chromosome with hemophilia, from either parent, she has the other X to compensate. This way, females are spared from acquiring the full-blown disease. Some females may exhibit symptoms such as heavy menstrual bleeding. Even though females are not overtly affected by Hemophilia, they can be carriers, as the female still has a quiet X with Hemophilia. If the Hemophilia X is passed down to her son, that will be his only X, and he would have Hemophilia. If the son happens to inherit her healthy X, he would be Hemophilia free. 

Sons born to fathers with Hemophilia do not acquire the disease from the father, as the father provides only the Y chromosome which is not associated with Hemophilia. Daughters can inherit the gene from either a mother who is a carrier or from a father who has Hemophilia. The genetic lottery plays a major role in inheriting Hemophilia.

Living with Hemophilia
Patients with severe hemophilia should receive regular replacement therapy with clotting factor concentrates. Depending on the type of Hemophilia, the patient will receive Factor VIII or Factor IX replacement. 

The treatment is preventive, not curative. Untreated Hemophilia could result in long term joint deformities as these patients bleed into their joints. Those with Hemophilia are advised to avoid contact sports, such as rugby, to be careful with medicines that affect blood clotting , such as Aspirin and Ibuprofen, and to take care of their teeth and gums and have regular check-ups with a dentist.