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Posted on Apr 17, 2016 |

World Haemophilia Day

World Haemophilia Day

Haemophilia Patients can have near normal life!
Prevention is always a best approach

Normally, when you cut yourself, substances in the blood known as clotting factors combine with blood cells called platelets to make the blood sticky and stop bleeding.

However, in haemophilia, there is reduction in one of the clotting factors making person susceptible for prolonged bleeding or taking longer time to stop bleeding. The symptoms of hemophilia can be mild to severe, depending on the level of clotting factors you have. Most cases are mild who would need treatment only during operations or following trauma. But people with severe haemophilia experience bleeding symptoms either spontaneously or with minimal trauma which requires ongoing care. This usually occurs around the joints and muscles, causing pain and stiffness. It can also lead to joint damage over time.

Haemophilia is an inherited genetic condition meaning the condition is passed to a child by one or both of their parents that affects the blood’s ability to clot. Boys tend to be the sufferer and girls tend to be the carriers given the X linked genetic basis. Carrier means they carry the defective gene but are not affected with bleeding problems but have tendency to pass the abnormal gene to half of their children. Carrier mother could still have unaffected boy with help of prenatal diagnosis.

Haemophilia affects 1 in 10,000 births, current estimated 3380 cases in Andhra Pradesh and 50,000 cases in India as per ICMR statistics in 2014.

Although there’s no cure for haemophilia, treatment usually allows a person with the condition to enjoy a good quality of life. Treatment of haemophilia is by replacement of the missing clotting factors, which is done by injection into a vein.

Historically, treatment was only given once a bleed had occurred or prior to surgery. Modern treatment involves giving regular or prophylactic factor replacement therapy twice a week to prevent any damage to joints or muscles and improve good quality of life.

Haemophilia treatment is expensive when it is to be given as prevention, there is need for development of national programs focusing on comprehensive individual care, family support, genetic counseling and prevention.

Haemophilia although is not curable, patients could have near normal life with preventative regular factor replacement therapy and good medical care. Further transmission could be prevented by prenatal diagnosis from 9 weeks of pregnancy onwards.

Written by
MD, MRCP, FRCPath(Haematology)
Consultant Haemato oncology and Stem cell Transplant
Apollo Hospitals, Hyderabad