Presenters:

Nuzhat Sultana
Nida Zafar
Iqra Karim
presentation about: Sickle cell anemia
 SICKLE CELL ANAEMIA

Introduction

• It is an inherited blood disease that affects red blood cells

• It is autosomal recessive
• Defected gene that causes sickle cell is present on the
chromosome number 11.
• HBB gene is the defected gene, it prepares a protein, B-globin
• B-globin, subunit of hemoglobin, results in a defected
hemoglobin
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• Normal cells are spherical, smooth and easily glide through blood vessels
• While sickle cells are crescent or concaved shape, sticky and stiff
• Such cells face difficulty to flow in blood vessels as they stick together with the walls of the vessels causing blockage
Background
• The genetic mutation occurred some times ago in Africa
• Malaria was a brutal disease that time causing death to thousands of Africans
• A genetic mutation occurred in HBB gene, causing sickle cell trait in them
• Sickle cell trait is not sickle cell anemia
• Advantage was, such cells die in 20 days and malarial parasite could not complete its cycle
to survive
• Disadvantage is, this trait transferred to their offspring who were real sickle cell anemic
• This disease spread all over the world which still does not have permanent cure
• 1910: western medicine recognized it
• 1st medical paper on sickle cell was published
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• 1927: An Indiana surgeon and intern found lack of blood oxygen is a factor for this disease
• 1949: California Chemistry professor regarded it as the 1 st molecular disease
• 1957: A doctor studying protein chemistry in England, found sickle cell is a single genetic mutation disease
• 2021: Red Cross launched sickle cell initiative (largest supplies of blood)
Causes of mutation:
Environmental factors.
Spontaneous mutation

• There are five types of spontaneous mutation:

1. Tautomerism
2. Depurination
3. Deamination
4. Transition
5. Transversion
Point Mutation
 Symptoms

• Symptoms of sickle cell anemia usually appear around six months of age.
• They vary from person to person and may change over time.
• The main symptoms and signs of sickle cell anemia include:
1. Anemia
2. Painful episodes
3. Bacterial infections
Anemia
• Patients with anemia have low hemoglobin in the blood.
 Painful episodes

• It is also called acute pain crisis

• It occurs as a result of the blockage of blood it causes intense pain in the chest, abdomen and joints
• The pain may last for a few hours to a few days
• Some adolescence and adults go through chronic pain which results from bone and joint damage, ulcers and other causes
• Bacterial infection
• People with sickle cell disease are more likely to get infected
• Infections may range from mild such as cold, to much more serious such as meningitis
Other problems
• Other problems include splenetic sequestration, stroke, pulmonary hypertension, chronic kidney disease and detached retina
 Treatment

1. Transfusions
• It included acute transfusions, red blood cell transfusions and regular or ongoing blood transfusions
2. Blood and bone marrow transplant
3. Potential genetic therapy treatments
Thank You