This document discusses the prevalence of several genetic disorders in Pakistan based on various studies. It reports that 5.4% of the Pakistani population are carriers for thalassemia with 1 in 20 individuals carrying the gene for beta-thalassemia. A 2014 study of thalassemia major patients found the highest rates were in children ages 0-5 and 6-10. The document also finds high rates of the delta F508 cystic fibrosis mutation in Pakistani children and a 68.1% prevalence of dental caries in children with Down syndrome. Other disorders discussed include spinal muscular atrophy, where 56% of cases were type 1, and acute forms of leukemia were found to be more prevalent than chronic forms in Pakistan.

1. Prevalence of
Genetic Disorders in
Pakistan
Maliha Jabeen Butt
Roll No: 21

2. Genetic
disorders
Disease caused by a
change or a
mutation in DNA
Monogenic
mutations
Multiphactorial
inheritance
disorder

3. Thalassaemia
• Blood disorder
• Body makes inadequate
form of haemoglobin
• Leads to anemia

4. Study in 2014 • Sample collection
• family history of
thalassaemia
Numbers TM with
age 0-5
years
TM with
age 6-10
years
TM with
age 21-40
years
34 cases 29
cases
4
cases
1 cases

5. • 5.4% carrier rate of
thalassaemia in Pak
• 1/20 individuals
carries a gene for B-
thalassemia
• One of the
commonest
inheritable disorders
in
Pakistan.

6. Autosomal recessive
Pakistan’s population has approximately 5% of the people carry
the gene for β6, 7 thalassaemia.
In thalassaemia major (TM) patients regular blood transfusions
were examined.
Majority of the patients at a thalassaemia treatment center are
chronically under-transfused and have moderate to severe growth
retardation.
They get inadequate iron chelation resulting in high mortality
before tenth year of life.

7. Cystic fibrosis
Hereditary disease
affecting lungs and
digestive system
Thick mucus clogs
the lungs
Obstructs pancreas
Life threatening
disease
Cause respiratory
failure

9. Cystic Fibrosis
Genetic analysis of cystic fibrosis in
Pakistan: A preliminary report

10. Cystic fibrosis
(CF) is a genetic
disease
associated with
pulmonary and
pancreatic
insufficiency.
The presence of
the CFTR gene
mutation at
position 508
(delta F508) was
evaluated in 15
children.
The DNA from
mononuclear
cells was
extracted using
the polymerase
chain reaction.
The delta F508
mutation was
found in 9 cases
(60%), of which 5
were
homozygous for
the disorder.

11. Down
Syndrome
Oral Health of Individuals
with Down Syndrome in
Karachi, Pakistan

12. The frequency of oral hygiene status of
children with Down syndrome
Total 119 children with Down syndrome of age
5-20 years of either gender were enrolled.
The overall caries prevalence in the study
population was 68.1% .Out of 119 children with
Down syndrome, (51.2%), 27.7% had fair hygiene
status and 21% had poor hygiene status.
A high prevalence of dental caries was
observed among children with Down
Syndrome.

13. Spinal muscular atropy
• Autosomal
recessive disorder
• Weakness of lower
motor neurons
• Most common
cause of death in
infants
• SMN gene 1
deletion is most
common

14. Spinal
muscular atropy
Children with
discharge diagnosis
of SMA during last
10 years (2012)

15. Results and
conclusion
67 children had
diagnosis
discharge
68% were
infants
56% with SMA1
19 patients out
of 22 with
SMN1 deletion
68% high
parental
consanguinity
19%
undiagnosed
early death
rate

16. Leukemia
• Cancer of body’s blood forming tissues
• Bone marrow and lymphatic system
RBC’S
WBC’S
NORMAL LEUKEMIA

17. Leukemia
Prevalence of acute
and chronic
leukemia in various
regions of Pakistan
(2015-16)

18. • Institute of
radiotherapy and
nuclear medicine
• A data of 400 patients
was evaluated
• 175 patients treated in
2015
• 225 patients treated in
2016

19. Conclusion
Types of
leukemia
Male (%) Female (%) Total n (%)
AML 18.7% 12.5% 31.25%
CML 6.25% 3.75% 10%
ALL 32.5% 17% 49.5%
CLL 7% 2.25% 9.25%

20. • Acute leukemia prevalence higher than chronic
leukemia
• 31% cancer cases by leukemia in 15 yrs old
• 64.5% male patients
• 35.5% female patients
Acute leukemia Chronic leukemia
80% 20%