Last sunday, we attend forum di lecture theatre, RIPAS. Our guest from Paediatric Hospital KL (Paed Haemo-Oncology) iaitu DR Hisham Shah, Md Ibrahim.
First, apa yang kitani tau mengenai Penyakit Thalasaemia??
Its a commonest haematological problem in our community.
A medically debilitating disease,
Life-long blood transfusion,
8-10 hours injection daily for 5-6 days a week,
Multi organ complications.
Therefore, Public awareness of the disease is very important.
Types of Thalasaemia:
- Thalasaemia carriers ada 2 jenis iaitu Thalasaemia Minor dan Thalasaemia Trait
- Thalasaemia Major
<1 year - 62% -75%
1-2 year - 29%-35%
>2 year - 9% - 11%
(Modell & Berdoukas, 1984).
Sign & symptom:
Loss of appetite
- Supportive Therapy; Blood treatment, Iron chelation Therapy.
- Curative Therapy; Stem cell transplantation.
Pituitary - Impaired growth
Heart - Cardiomyopathy
Liver - Hepatic Cirrhosis
Desferal (Desferrioxamine) given via injection 5-6 days/week by injecting needle under the skin for the rest of their life....Life long...
Thalasaemia SET.....More expensive but safer than using butterfly needles.
Tablet (Desferasirox) taken once daily...but expensive.....
Haemo-Stem Cell Transplant:
- The only curative option
- A form of gene therapy
- Replace defective hematopoietic system from healthy compatible donors
Gene therapy ~ Ultimate goal to cure genetic diseases.
Can we prevent Thalasaemia???
In the West, they prevent further thalasaemia.
In our country?...By giving transfusion and offer chelation.
Thalasaemia prevention & control programme;
- Confidential premarital screening mandatory
- 98% at risk couples detected prior to marriage proceed to marry
- At risk couples having fewer children and utilise prenatal diagnosis
- Screening also done in high school.
Chrionic Villus sampling
PGD ~ Pre-implantation (retrieve several ovums)- genetic disease blastocyst by;
Biopsy 1-2 cells
Introduce healthy embryo/embrios.
Can we abort thalasaemia baby?
Non-maleficence- first do no harm
When does life begin?...After 120 days??
when does life begin
Abortion- In whose interest?, Life VS no life
Genetic Selection- designer babies, Eugenics.
Considered a social stigma
Wife blamed-menyalahkan pasangan masing masing.
FATWA on Termination~ Termination of pregnancy;
- 1-40 days- MAKROH (not desirable)
- Before 120 days- HARUS (permissible) if fetus affected AND life of mum at risk
- >120 days- HARAM (not permissible)..unless life of mum at risk.