“Hemophilia” – a Disease that May Not Be Cured But Opportunities for a Good Life Are Still Possible

Patients suffering from Hemophilia, a genetic disease that lasts throughout one’s lifetime and has no long-term cure can still expect a quality of life.  A Chula medical specialist recommends preventive replacement factor treatment that uses an application to record abnormal bleeding along with regular communication with one’s physician.

Bleeding when one is wounded is a common occurrence for everyone.  Yet there are cases where a person experiences bleeding without having had any cuts or wounds.  There can also be instances of bleeding without any wounds or only a slight injury and the bleeding shows no sign of stopping especially in the joints or muscles.  These symptoms shouldn’t be ignored since they might mean that a person has Hemophilia. 

Dr. Chatphatai Moonla, General Medicine Instructor, General Practitioner in Hematologic Diseases, Division of General Medicine, King Chulalongkorn Memorial Hospital explains that “Hemophilia is a genetic disease that is found only in males.  Out of a population of ten to twenty thousand, one hemophiliac might be found.  This disease is caused by a genetic disorder that impairs the body’s ability to make blood clot.  Patients usually display abnormal bleeding patterns from the time of their birth while in some cases they are found in their childhood or adolescence if they experience joint bleeds or easy bruising during the motor development process.”  

At present, around 1,800 people suffer from Hemophilia but it is hoped that more patients can be diagnosed, especially those displaying only mild symptoms.  This would require more awareness among the public and medical professionals in all areas to realize the importance of detecting this disease.  

What causes Hemophilia

Hemophilia is caused by a disorder of the gene that creates the coagulation factor which is called factor for short.  There are two important factors: factor VIII and factor IX.  Those lacking factor VIII have hemophilia A and those without factor IX have hemophilia B.  In 2020, Thailand had 1,600 patients with hemophilia A and 200 with hemophilia B.  

Dr. Chatphatai explained that hemophilia A and B are both X-linked recessive disorders which is why it affects males who acquire the X hemophiliac chromosome from their mothers while females with the hemophiliac gene are carriers but asymptomatic.

How much bleeding indicates that it’s hemophilia?

Characteristic symptoms for hemophilia vary according to severity.  80-100 percent of the bleeding is joint bleeding whereas 10-20% is muscle bleeding that happens after an accident or collision such as in a sports tournament.  The severity of the disease depends on the level of factor VII or factor IX and can be divided into 3 levels as follow:

Severe hemophilia symptoms (factor level less than 1 percent)

usually show signs of bruising on their bodies from the time they are very young, and experience joint or muscle bleeding without having had an accident or collision. 

Moderate hemophilia symptoms (factor level of 1-5 percent)

will experience joint or muscle bleeding after only a slight accident.  In only some cases will they experience joint bleeds on their own.

Slight hemophilia symptoms (factor level between 5-40 percent)

usually don’t bleed on their own but will find it hard to stop the bleeding after an accident or surgical procedure like tooth extraction, for example. 

Easy bleeding makes life difficult.

Patients with hemophilia have to be extra cautious in avoiding crashes and collisions.  This affects their way of life, especially for those in their childhood where active fun and games are a part of their physical development and learning process. 

“Active kids who take part in strenuous physical activities that affect their muscles and joints may encounter situations of bleeding.  Many need to refrain from such activities and some need to be absent from school whenever they start bleeding and require treatment.  Those who fail to receive treatment when they are young will go through osteoarthritis or joint impairments that adversely affect their way of life and put them in need of caregiver’s assistance and worse yet, disabilities leading to them being crippled.” 

Diagnosis of hemophilia

 Dr. Chatphatai advises male babies born to families with a history of hemophilia to be tested for the disease by way of assessing their blood clot ability and factor levels of factor VII and IX from the time of their birth or during infancy. 

 “A family with a child who shows abnormal bleeding in the joints or muscles or has bleeding marks on the skin after only a small bump should bring the baby to his pediatrician for assessment.”

“Patients showing slight or moderate signs who encounter bruising or bleeding in the joints or muscles, or those who continue to bleed after a tooth extraction or surgery should make sure to see their physician for further diagnosis as well.”

Forms of treatment to ensure a better quality of life

We have yet to find a cure for hemophilia but there are two forms of treatment available – treatment and prevention of bleeding episodes. 

“Prevention is the best form of treatment which is done by replacing the missing blood clotting factors 2-3 or more times a week.  Here in Thailand, there are still some limitations based on budgetary concerns whereas in some foreign countries, factors could be given every other day to prevent abnormal bleeding and successfully delay joint osteoarthritis.”   

Since care for hemophilia patients needs to be done continuously throughout the patient’s lifetime, systems and technologies have therefore been developed to help both the patients and their doctors to follow up on their symptoms and provide extended care.  Various applications such as the HemMobile recommended by King Chulalongkorn Memorial Hospital have been tested on patients.  The application works like a personal assistant for the patient recording all instances of abnormal bleeding and factor injections onto the application that will process that data onto the physician to observe the patient’s bleeding patterns leading to greater accuracy and appropriate treatment.” 

“Care for a hemophiliac is a lifelong process.  The patient and his family must understand the disease as well as the treatment.  The team of doctors treating the patient must be knowledgeable and engage in a close relationship with the patient.  This will ensure that the patient will receive appropriate care in the long run and be able to live with hemophilia while enjoying a good quality of life, especially for children who should be able to grow up with a strong life and with the least occurrences of osteoarthritis.”  Dr. Chatphatai concluded.

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