Early diagnosis of hemophilia imperative

Early diagnosis of hemophilia imperative

Debbie A. Lubis, The Jakarta Post, Jakarta

Nobody in the family had ever imagined that the small cut in
Markus' mouth would cause his death. His parents panicked when
they realized that the wound would not stop bleeding.

When the Papuan boy was admitted to Cipto Mangunkusumo General
Hospital (RSCM) in Jakarta, doctors told his parents that Markus
had hemophilia -- a blood defect that causes delayed clotting and
prolonged bleeding.

Markus got the cut in the mouth after falling from a tree.
Doctors in Papua were unable to stop the bleeding by way of
stitching the open wound.

S. Moeslichan, a pediatric and oncologic professor at the
Hemophilia Care Center of RSCM, says that a great many parents
lack knowledge about hemophilia.

He estimates that about 20,000 males suffer hemophilia
throughout Indonesia and that the disease affects one in every
5,000 male births worldwide.

He is surprised by a report by the Indonesian Hemophilia
Foundation (YHI) that claims that the number of hemophiliacs
throughout the country is only 530.

Moeslichan warns that late diagnosis of hemophilia delays
proper treatment that may result in paralysis and eventual death.

"The public knows so little about this disease," he says.
"Actually with proper treatment, a patient can lead a normal and
productive life because the bleeding can be controlled," he said.

Hemophilia is an inherited bleeding disorder passed on by a
mother through an X chromosome to male offspring. People with
hemophilia lack Factor VIII or IX in their blood so they
experience prolonged bleeding and even internal or spontaneous
bleeding in joints, muscles and soft tissue.

Moeslichan says bleeding that involves muscles and joints
causes painful swelling or lack of movement in an arm or leg
because blood unable to clot is trapped under the skin.

"Parents usually learn about hemophilia when there is
excessive bleeding from a minor cut or no obvious injury
(spontaneous bleeding), surgery or a tooth extraction," he said.

Yudhistira Abidin, 22, lives a painful life he stumbled into a
chair two years ago and surgeons had to remove a few liters of
blood trapped in his calf. He has been confined to a wheel chair
ever since.

"I first learned about my son's disease when he was
circumcised 12 years ago. He bled and I rushed him to the hospi
tal for a transfusion," Yudhistira's mother says.

Moeslichan says that there are two alternatives of lifelong
treatment for hemophilia patients: transfusions or injections.

The simplest treatment is to give routine transfusions such as
Cryoprecipitate -AHF for patients with hemophilia type A and
fresh frozen plasma for patients with hemophilia type B, he says.

Hemophilia type A is the most common and is due to a
deficiency of Factor VIII (FVIII) while hemophilia B is due to a
deficiency of Factor IX (FIX).

Moeslichan says the amount of transfusion depends on a
patient's height, weight and age. Generally, a hemophiliac needs
20 units for each kilogram of weight in one treatment. The
treatment is usually given twice a week.

The treatment is very costly. P. Sianipar, a father of a 19-
year-old hemophiliac, says that he spends Rp 1.2 million for 250
units of Cryoprecipitate.

Yayasan Hemophilia Indonesia, Jl. Pekapuran VIII No. 41
(d/h Jl. Betet), Kelurahan Tambora, Jakarta 11220, tel. (021)
6391044/6404507