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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,
Expensive medications,
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:

  1. Thalasaemia carriers ada 2 jenis iaitu Thalasaemia Minor dan Thalasaemia Trait
  2. Thalasaemia Major
Age at presentation:
<1 year - 62% -75%
1-2 year - 29%-35%
>2 year - 9% - 11%
(Modell & Berdoukas, 1984).

Sign & symptom:
Pallor
Easily tired
Loss of appetite
Disturbed sleep.

Treatment:
  1. Supportive Therapy; Blood treatment, Iron chelation Therapy.
  2. Curative Therapy; Stem cell transplantation.
Organ system susceptible to iron overload:

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...
Side-effects:
Local infection
Abscess formation
Erythema

Thalasaemia SET.....More expensive but safer than using butterfly needles.

Tablet (Desferasirox) taken once daily...but expensive.....

Haemo-Stem Cell Transplant:
  1. The only curative option
  2. A form of gene therapy
  3. Replace defective hematopoietic system from healthy compatible donors
Cure VS Death:
Gene therapy ~ Ultimate goal to cure genetic diseases.

Can we prevent Thalasaemia???
In the West, they prevent further thalasaemia.Italic
In our country?...By giving transfusion and offer chelation.

Thalasaemia prevention & control programme;
  1. Screening
  2. Detection
  3. Counselling
Prevention programme - most successful in Med-countries.
In Cyprus:
  1. Confidential premarital screening mandatory
  2. 98% at risk couples detected prior to marriage proceed to marry
  3. At risk couples having fewer children and utilise prenatal diagnosis
  4. Screening also done in high school.
Antenatal diagnosis selective abortion: (8-9 weeks)
Amniocentesis
Chrionic Villus sampling
Cordocentesis.

PGD ~ Pre-implantation (retrieve several ovums)- genetic disease blastocyst by;
Induce ovulation
IVF
Biopsy 1-2 cells
Introduce healthy embryo/embrios.

Can we abort thalasaemia baby?
Ethically??
Religiously wrong??
Non-maleficence- first do no harm
Beneficience.

When does life begin?...After 120 days??

Ethical Issues..
Antenatal diagnosis
when does life begin
Abortion- In whose interest?, Life VS no life
Genetic Selection- designer babies, Eugenics.

Among couples...
Considered a social stigma
Relatives/ Illiterate
Wife blamed-menyalahkan pasangan masing masing.


FATWA on Termination~ Termination of pregnancy;
  1. 1-40 days- MAKROH (not desirable)
  2. Before 120 days- HARUS (permissible) if fetus affected AND life of mum at risk
  3. >120 days- HARAM (not permissible)..unless life of mum at risk.

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