Hemophilia: the defective bloodline
Will you continue your pregnancy if your child inherits an incurable life-long blood clot disorder?
Chu Junlang appears to be a healthy 13-year-old attending his first year of secondary school in Guangzhou, China. But underneath his seemingly healthy exterior belies a life-long burden - he is a hemophiliac!
Junlang was 3 months old when his mother discovered a bruise the size of an egg on his underarms. She brought him to the doctor, thinking that she may have bruised him accidentally. But blood tests soon revealed that he has hemophilia, a life-long blood clotting disorder.
It was only then that Junlang's mother, Mrs Liang, 36, also discovered that she had an older brother with the disease who passed away before she was born, at two years old. Junlang's grandmother is a hemophilia carrier and so is his mother. The family was ignorant to this condition because of a lack of education and awareness in the early days. Mrs Liang admits that had she known of her condition, she would have aborted the baby.
But luckily for Junlang, he was showered with a lot of care and love from his family. His mother shares that with proper care and daily injection of prophylaxis to control and prevent bleeding episodes, he could lead a relatively normal life, and even hopes that he will find a nice girl and marry eventually.
And the kicker is, if Junlang finds a girl who is completely healthy (that is, both her X chromosomes are in good condition), they will have perfectly healthy children and break the hemophilia bloodline!
Hemophilia is an inherited genetic blood disorder that is passed on by the mother, and only affects boys. A discriminating disorder, haemophilia affects primarily one in every 5,000 boys, although there have been rare occasions where the daughter was affected. The girls are usually the carriers of the hemophilic gene, where one of her x-chromosome has a recessive trait. When the girl becomes a mother, the son or daughter she gives birth to has a 50% chance of being a haemophiliac or a carrier of the defective gene respectively. Read more about families living with hemophilia here.
There are two types of hemophilia: hemophilia A - with a deficiency of clotting factor 8 (VIII) and hemophilia B - with a deficiency of clotting factor 9 (IX). The severity of the bleeding tendency depends on the range of activity of factor 8 or 9.
According to the World Federation of Hemophilia, approximately 400,000 people around the world have haemophilia, but only 25% are currently receiving adequate treatment. In Asia, this rate is even lower, meaning that a large percentage of hemophiliacs do not have access to proper treatment and diagnosis facilities that can enable them to lead relatively normal lives. Singapore has 200 hemophiliac patients, according to the Hemophilia Society of Singapore.
To address this issue, the Asia Pacific Hemophilia Camp was set up in 2009 as an outreach program to educate and bring awareness to the public. It also serves as a platform where Hemophilia patients can interact and share experiences with one another.
theAsianparent joined the patients at the 3rd Asia Pacific Hemophilia Camp in Hsinchu, Taiwan (July 15 -18) to find out what went on at the camp.
Taiwanese kids at the conference
Hosted by the Taiwan Hemophilia Society, the camp aims to empower the hemophilia community with expert advice, useful information, and a motivating message: Live Your Best Life - Hemophilia or Not!
Low impact exercises that do not strain their joints like swimming and cycling are strongly encouraged.
As the condition can cause prolonged or spontaneous bleeding, especially in muscles, joints or internal organs, hemophiliacs have to be careful with their choice of physical activity.
Patients practicing self-infusion with the medical kit.
Hemophilia patients are used to injections at a very young age; most learnt to infuse themselves at 11 years old. Patients were given medical kits at the camp so that they and their family members can learn how to self-infuse at home.