KUALA LUMPUR – When Edwin Goh was a toddler, he used to be susceptible to bruises and bleeding as soon as he started to crawl and walk and it was routine for him to be admitted to hospital.
When he was 18 months old, Goh was diagnosed with haemophilia, a bleeding disorder.
The diagnosis came after he had a bad fall while learning to walk and had a major bleeding episode. He was referred to the Blood Bank in the Kuala Lumpur Hospital (now known as the National Blood Centre) and was diagnosed after a blood test was taken.
“My parents were very sad when the doctor informed them that I had a bleeding disorder… especially my mum when she knew she was a (haemophilia) carrier,” he said.
Recalling his school days, Goh, who is now 40 and a banker by profession, said he was often late for school as he had to visit the blood bank regularly.
During physical education classes, he would feel alienated as he could only watch while his friends were playing.
While his teachers were aware of his condition, one particular substitute teacher who took over Goh’s class one day did not know. As the class was noisy, the teacher punished the whole class by hitting their palm with a ruler.
Goh, not wanting to be treated differently, offered his palm too.
“And guess what, the next morning my whole palm was swollen. I was unable to write for almost a week until the swelling subsided and the bruises were gone,” he said, adding that after he reached adulthood he realised there was no extraordinary challenge he could not overcome.
About haemophilia
Goh, who is a bachelor and loves travelling and trying out different kinds of food, said during his teens he occasionally wondered why he had the disease but over the years he grew more positive and believed that haemophilia is not a barrier to his success.
“In fact, sometimes I do feel I am blessed in a way because due to haemophilia, I am able to get to know wonderful people who also have bleeding disorders all over the world,” added Goh, who is an active member of the Haemophilia Society of Malaysia (HSM).
According to Ampang Hospital consultant haematologist Dr Veena Selvaratnam, haemophilia is caused by the deficiency or absence of a specific clotting factor in the blood.
“Under normal circumstances, the blood is kept in a fluid state by various factors in the body, whereby the clotting and the anti-clotting factors are in equilibrium to ensure this fluid state.
“There are 13 clotting factors in the body and deficiency of any of these factors results in haemophilia,” she told Bernama in an interview recently.
The disease is usually inherited and the carrier is a female who has a gene that causes a deficiency in specific clotting factors in the blood. Since females are carriers, the majority of patients are males.
In rare situations, said Dr Veena, haemophilia can also be acquired due to the development of antibodies against a specific clotting factor, thus causing a deficiency of that particular clotting factor.
“In such a situation, the person is not born with the disease and it usually resolves once the antibodies are cleared,” she explained.
Treatment
Haemophilia symptoms include bleeding at the joints, muscles and soft tissues; excessive bruising; prolonged and heavy menstrual periods (menorrhoea); unexplained nosebleeds; and extended bleeding after minor cuts, blood draws, vaccinations, minor surgery or dental procedures.
Sometimes the bleeding is spontaneous without a known or identifiable source.
Dr Veena also explained that the main objective of haemophilia treatment is to replace the deficient factor, either directly or indirectly, in order to prevent bleeding episodes.
“In the past, patients used to be treated with blood and plasma, however nowadays, the paradigm has evolved by leaps and bounds,” she said.
With new discoveries, treatment options available are vast and can be divided into three categories, namely using plasma-derived factor concentrates, recombinant factor concentrates and novel therapies.
Scientists are also looking into gene therapy in the hope of finding a cure for haemophilia.
Stressing on non-medication treatment, Dr Veena said patients need to keep fit and maintain healthy joints through regular physiotherapy and exercising.
“Patients who are fit and lean tend to bleed less as compared to those who are overweight,” she added.
Goh, meanwhile, hoped that society will realise that people with bleeding disorders are normal individuals who can, with proper care, contribute to the nation.
He urged employers not to discriminate against haemophiliacs by assuming that they will need to take medical leave frequently and will not be able to perform their tasks efficiently.
Currently, there are approximately 1,127 haemophilia patients in Malaysia. Since it is a relatively rare disease, there is a lack of public awareness on haemophilia.
Serving as the voice for the haemophilia community in Malaysia is the Haemophilia Society of Malaysia, which is a member of the World Federation of Haemophilia.
— BERNAMA
