This Lecture is presented by our 2k23 volunteer and Content Presenter Zargull Sadein , she is from Karachi, Pakistan, and she is covering "Common Genetic Disorders Prevailing in Pakistan". Youtube: https://youtu.be/16scqaB1yjk

1. Common Genetic
Disorders
Prevailing in
Pakistan
PRESENTED BY ZARGULL SADEIN

2. IMPORTANCE OF UNDERSTANDING GENETIC
DISORDER
PREVENTING
TRANSMISSION
01 02 03 04
EARLY
DETECTION
AND
DIAGONSIS
TREATMENT
AND
MANAGEMENT
RESEARCH
AND
INNOVATION

3. GENETIC DISORDER
A genetic disorder, also known as a
inherited disorder, is a medical condition caused by
abnormalities or mutations in an individual's DNA . These
genetic mutations can be inherited from one's parents or
can occur spontaneously during one's lifetime. Genetic
disorders can affect various aspects of an individual's
health, including physical development, organ function,
metabolism, and susceptibility to certain diseases.

4. COMMON Genetic Disorders In Pakistan
01
THELASSEMIA
02
CYSTIC
FIBROSIS
03
HEAMOPHILIA

5. INSTITUIÇÃO 1
MATÉRIAS ESTUDADAS
NOME DO CURSO/NOME DA INSTITUIÇÃO AQUI
HABILIDADES ADQUIRIDAS
ANO MATÉRIA
2018 Marte
2019 Mercúrio
2020 Júpiter
NÍVEL HABILIDADES
Nível 3 Saturno
Nível 5 Vênus
Nível 2 Netuno

6. INSTITUIÇÃO 1
MATÉRIAS ESTUDADAS
NOME DO CURSO/NOME DA INSTITUIÇÃO AQUI
HABILIDADES ADQUIRIDAS
ANO MATÉRIA
2018 Marte
2019 Mercúrio
2020 Júpiter
TYPES OF THALASSEMIA

8. The estimated population of Pakistan is approximately (225 million). In
Pakistan β-thalassemia (β-thal) trait frequency ranges between 5.0-7.0%,
thus, there are more than 10 million carriers in the country; and every
year, around 5000 children are diagnosed to carry β-thal major (β-TM) in
Pakistan. Currently in Pakistan, at the national level, not a single
thalassemia prevention program is available to counter this disease.
However, at the provincial level some initiatives have been taken,
legislation has been approved for premarital screening in Sindh, Khyber
Pakhtunkhwa (KPK) and Baluchistan, but implementation remains the
issue.
Prevalence of Thalassemia

9. CYSTIC FIBROSIS
Cystic fibrosis (CF) is a genetic disorder
that primarily affects the lungs and
digestive system. It is caused by mutations
in the CFTR (cystic fibrosis
transmembrane conductance
regulator) gene, which results in the
production of thick and sticky mucus in
the airways and various organs. This
mucus buildup can lead to breathing
difficulties, lung infections, and
digestive problems

10. TRABALHO VOLUNTÁRIO
MERCÚRIO
Mercúrio é o planeta mais
próximo do Sol
VÊNUS
Vênus é o segundo mais
próximo do Sol
MARTE
Apesar de ser vermelho,
Marte é um lugar frio

12. HABILIDADES TÉCNICAS
Mercúrio é o menor e mais interno
planeta do Sistema Solar. Só é um
pouco maior que a Lua
Vênus tem um nome muito bonito
e é o segundo mais próximo do Sol.
É terrivelmente quente
MERCÚRIO VÊNUS

13. HABILIDADES DE COMPUTADOR
MERCÚRIO
Mercúrio é o planeta mais
próximo do Sol
VÊNUS
Vênus é o segundo mais
próximo do Sol
JÚPITER
Júpiter é o maior de todos
os planetas
SATURNO
Saturno é composto de
hidrogênio e hélio
MARTE
Apesar de ser vermelho,
Marte é um lugar frio
NETUNO
Netuno é o planeta mais
distante do Sol

14. Marte é um planeta frio.
Marte apresenta poeira de
óxido de ferro
HABILIDADES SOCIAIS
MARTE - 60%
Júpiter é um gigante gasoso.
É o quarto objeto mais
brilhante do céu noturno
JÚPITER - 40%
● Mercúrio é o menor e mais interno
planeta do Sistema Solar
● O nome deste planeta não tem
nada a ver com o metal líquido
MERCÚRIO
● Saturno é um gigante gasoso e tem
vários anéis
● É composto principalmente de
hidrogênio e hélio
SATURNO

15. Genetic disorders are relatively more common in Pakistan
compared to some other regions due to a combination of genetic,
cultural, and demographic factors. Here are some of the reasons
why genetic disorders have a higher prevalence in Pakistan:
● Consanguineous Marriages
● Limited Genetic Counseling and
Awareness
● Lack of Prenatal Screening
● High Birth Rate
● Lack of Genetic Research

16. Efforts to address the high prevalence of genetic disorders in
Pakistan include promoting genetic counseling, raising awareness
about the risks associated with consanguinity, expanding access to
prenatal screening and diagnostic services, and conducting research
to better understand the genetic landscape of the population.
Public health initiatives and education campaigns can also play a
crucial role in reducing the incidence of genetic disorders in the
country.
CONCLUSION

17. REFERENCES
..-.. THE END..-..
• Weatherall, D. J. (2001). The Thalassaemias: The Role of Molecular Genetics
in an Evolving Global Health Problem. American Journal of Human Genetics,
69(6), 1247-1256.
• Kumar, R., & Abbas, A. (2016). Beta thalassemia in Pakistan: A comprehensive
review. Cureus, 8(9), e787.
• National Institute of Health (NIH) Pakistan. (2021). Genetic Blood Disorders
Program. Retrieved from http://www.nih.org.pk/genetics-of-blood-disorders/