HUMAN GENETIC

DISEASES
Prepared By
Pooja Sanjeev
1st B.Ed. Natural Science
 INTRODUCTION
• A genetic disorder is an illness caused by one or more abnormalities in
the genome, especially a condition that is present from birth (congenital).
• Most genetic disorders are quite rare and affect one person in every several
thousands or millions.
• Genetic disorders may or may not be heritable; i.e; passed down from the
parent’s gene.
• In non-heritable genetic disorders, defects may be caused by new mutations
or changes to the DNA.
 HEMOPHILIA
• Hemophilia is a rare disorder in which your blood doesn’t clot normally

because it lacks sufficient blood-clotting proteins (clotting factors).

• Blood clots with the help of proteins present in blood plasma.

• Synthesis of proteins fails when the genes that control protein

synthesis become defective.

• When synthesis of protein fails excess blood is lost even through minor

wounds.

• There is no cure.
SYMPTOMS OF HEMOPHILIA

• Hard to stop nose bleeds.

• Heavy bleeding after losing a tooth.

• Large and colorful bruises.

• Heavy bleeding after an injury.

• Bleeding gums or mouths.

• Heavy menstrual bleeding.

 SICKLE CELL ANAEMIA
• It is a condition in which there aren’t enough healthy red

blood cells to carry oxygen throughout the body

• The red blood cells became rigid and sticky and are shaped

like sickles or crescent moons.

• These irregular shaped cells can get stuck in small blood

vessels, which can slow or block blood flow and oxygen to

parts of the body.

• It affects the erythrocytes

• It is characterized by the production of abnormal

haemoglobin, which misshapen RBC and breakdown easily.

• Causes pain crises, anaemia and organ damage.

• Bone marrow and Stem cell transplants are the treatments for sickle

cell anaemia
 CONCLUSION

Hemophilia and Sickle cell anaemia are two distinct yet

significant genetic disorders that impact individuals and families on

a profound level. Hemophilia, characterized by impaired blood

clotting, poses the risk of excessive bleeding and joint damage, while

sickle cell anaemia, marked by misshapen red blood cells, can lead to

pain crises, organ damage, and complications throughout life.

THANK YOU