Prepared by:

Adil khan.

SICKLE CELL ANEMIA

SICKLE CELL ANEMIA:

Sickle cell anemia is a disease in which the body makes sickle-shaped red blood cells

Normal red blood cells are disc-shaped .They move easily through blood vessels.

Red blood cells contain an iron-rich protein called hemoglobin. This protein carries oxygen from the lungs to the rest of the body

Sickle cells contain abnormal hemoglobin called sickle hemoglobin or hemoglobin S. Sickle hemoglobin causes the cells to develop a sickle shape.

Sickle cells are stiff and sticky.

They tend to block blood flow in the blood vessels of the limbs and other organs. Blocked blood flow can cause pain and organ damage

TYPES

• There are the following types.

• Sickle cell trait (HbAS)

• A person has an HbS gene and normal hemoglobin A gene (HbA).

• Under normal circumstances, these person have no symptoms of sickle cell disease

• Such children have no symptoms of sickle cell disease.

• Sickle cell anemia (HbSS)

• Person having two HbS genes, one inherited from each parent

• variety of symptoms and complications of sickle cell disease occur

SICKLE CELL TRAIT AND SICKLE CELL DISEASE

CAUSE Red blood cells contain hemoglobin

Haemoglobin consist of two alpha and two beta chains

In beta chain a single nucleotide is change, from GAG TO GTG.

GAG codon code glutamic acid and GTG code valine. So here the whole protein structure is change and this type of mutation is called miss sense mutation.

So miss sense mutation is responsible for sickle cell anemia.

EPIDEMIOLOGY

The highest frequency of sickle cell disease is found in tropical regions, particularly Africa, India and the Middle-East.

total of 150,000 affected children born every year in Nigeria alone.

About 70,000 people in the United States have sickle cell disease

In Saudi Arabia about 4.2% of the population carry the sickle-cell trait and 0.26% have sickle cell disease

Sickle Cell Disease (SCD) affects 90,000 Americans

DIAGNOSES

• Diagnosis of sickle cell disease and sickle cell trait can be done through blood testing.

• A special technique is also used called hemoglobin electrophoresis

• Hemoglobin Electrophoresis: A small blood sample is taken and sent to a laboratory where the percentage of normal and abnormal hemoglobin is measured.

SIGNS AND SYMPTOMS

• The most common symptom of anemia is fatigue (feeling tired or weak). Other signs and symptoms of anemia include:

• Shortness of breath

• Headaches

• Coldness in the hands and feet

• Jaundice (a yellowish color of the skin or whites of the eyes)

• Hand –foot syndrome due to the blockage of blood vessels in the hands and feet.

• Organs like spleen and liver also damages.

TREATMENT

• Treatment of sickle cell anemia includes:

• pain medications (for example, morphine).

• Anti-inflammatory medications (for example, ibuprofen).

• Antibiotics for infection.

• Intravenous or oral fluids.

• Transfusions of red blood cells are given for anemia.

• Stem cell transplant is performed in young patients with severe sickle cell disease.

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