Thalassemia Prevention in Pakistan

Prof. Imran Iqbal

What

Is

Your

Most likely

Diagnosis ?

Inheritance of -Thalassaemia

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

How to Prevent further Thalassemic births ?

Carrier Screening

Prenatal DiagnosisGenetic Counseling

• How can we find out Thallasemia carriers in the population ?

• Extended Family Carrier Screening

Extended family Extended family Carrier ScreeningCarrier ScreeningExtended family Extended family

Carrier ScreeningCarrier Screening

Index families183/591 (31%)

Control Families0/397 (0%)

General Population(5%)

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

Chorion villus biopsy

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

Islamic opinion / fatwa

Islamic view of Abortion

Abortionis 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