Thallasemia prevention

Prevention of Thalassemia in Pakistan

1. Thalassemia Prevention
in Pakistan
Prof. Imran Iqbal

3. What
Is
Your
Most likely
Diagnosis ?

5. Inheritance of b-Thalassaemia

6. β-Thalassaemia Major in Pakistan
•Annual birth rate:
5000
•Total numbers:
>50,000
•Registered cases:
~10,000
•Mean life expectancy:
10 years
(S. Ahmed 1998)

7. β-Thalassaemia Trait in Pakistan
Punjabi 4.6 %
Pathan 5.2 %
Sindhi 4.3 %
Baluchi 8.0 %
Urdu speaking5.3 %
Overall 5.5 %
(S. Ahmed 1998)

8. Autosomal Recessive Inheritance
•What are the chances
of the next baby being
affected ?
•Next child suffering
from Thallasemia
= 25 % chances

9. How to Prevent further
Thalassemic births ?

10. Carrier Screening
Prenatal Diagnosis Genetic Counseling

11. •How can we find out Thallasemia carriers
in the population ?
•Extended Family Carrier Screening

12. Extended family Extended family
Carrier ScreeningCarrier Screening

13. Index families
183/591 (31%)
Control Families
0/397 (0%)
General Population
(5%)

14. Prevention of
Thallasemia
•- - if Thallasemia patients are present
in the family---
•Carrier screening before marriage to
avoid marriage between Thallasemia
carriers

15. •How to explain the situation to the
parents, grandparents & other family
members ?
•Genetic Counseling

16. Genetic Counseling
•To understand and adapt to
medical, familial and
psychological consequences
of Genetic Disease

17. Prevention of Thalassaemia
•Identify the carriers
•Avoid marriage
between two carriers
•Offer prenatal
diagnosis to the
affected couples

18. •How can we prevent further Thallasemic
births in this family ?
•Prenatal diagnosis (Intrauterine
screening) for Thallasemia

19. Prevention of Thallasemia
•Prenatal diagnosis after marriage
•- if parents are Thallasemia carriers
•- after birth of an affected baby for the next
fetus

20. Prenatal diagnosis in Thallasemia ?
•Chorion villus biopsy to get fetal DNA at
8-10 weeks of LMP / Gestation
•PCR to copy /produce adequate DNA for
analysis
•Genetic / DNA analysis to detect
prevalent mutations of Thallasemia gene

21. Chorion villus biopsy

24. PND of Thalassaemia
•1
st
PND of Thalassaemia: May 1994
•Total PNDs at AFIP: 2174
–Thalassaemia trait: 1106 (50.9%)
–Normal: 526 (24.2%)
–Thalassaemia major: 542 (24.9%)
•Misdiagnosis: 6/1632 (0.37%)
(S. Ahmed, Prenatal Diagnosis 2007)

25. Identify Couple at Risk
Pregnancy
Fetal Sampling
Lab DiagnosisAffected Fetus Normal Fetus
Termination of Pregnancy
Prenatal Diagnosis

26. Medical Ethics of
Abortion / Termination of Pregnancy
•Medical ethics for Muslims is related to
Islamic jurisprudence or Fiqh
•In case of any difference of opinion,
consensus view of scholars is obtained

27. Islamic opinion / fatwa

28. Islamic view of Abortion
Abortion
is allowed to be performed
Prior to 120 days
from the start of conception
if
Fetus is having a proven, serious, untreatable
congenital malformation
or
is likely to develop serious disease or handicap
after birth