thallasemia prevention
TRANSCRIPT
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)
β-Thalassaemia Trait in Pakistan
Punjabi 4.6 %
Pathan 5.2 %
Sindhi 4.3 %
Baluchi 8.0 %
Urdu speaking 5.3 %
Overall 5.5 %
(S. Ahmed 1998)
Autosomal Recessive Inheritance
• What are the chances of the next baby being affected ?
• Next child suffering from Thallasemia
= 25 % chances
Extended family Extended family Carrier ScreeningCarrier ScreeningExtended family Extended family
Carrier ScreeningCarrier Screening
Prevention of Thallasemia
• - - if Thallasemia patients are present in the family---
• Carrier screening before marriage to avoid marriage between Thallasemia carriers
• How to explain the situation to the parents, grandparents & other family members ?
• Genetic Counseling
Genetic Counseling
•To understand and adapt to medical, familial and psychological consequences of Genetic Disease
Prevention of Thalassaemia
• Identify the carriers• Avoid marriage
between two carriers• Offer prenatal
diagnosis to the affected couples
• How can we prevent further Thallasemic births in this family ?
• Prenatal diagnosis (Intrauterine screening) for Thallasemia
Prevention of Thallasemia
• Prenatal diagnosis after marriage
• - if parents are Thallasemia carriers
• - after birth of an affected baby for the next fetus
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
PND of Thalassaemia
• 1st 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)
Identify Couple at Risk
Pregnancy
Fetal Sampling
Lab DiagnosisAffected Fetus Normal Fetus
Termination of Pregnancy
Prenatal Diagnosis
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