What causes sickle cell anaemia

What is Anaemia?

Our body is made up of blood cells. These blood cells have a component called red blood cells which carry oxygen and supply it to various parts of the body. The component in the red blood cell that is responsible for this is hemoglobin.

The abnormal reduction in either the number of red blood cells or the quality of hemoglobin is called anemia.

What is Sickle Cell Anemia?

Sickle cell anemia is a type of anemia in which there is low oxygen tension which leads to deformation of the red blood cells into a sickle shape. Sickle Cell Anemia is an autosomal recessive disease which means that only if both the parents have the sickle cell disease, the child will inherit the disease.

What causes Sickle Cell Anemia and what happens to the body?
The gene which is responsible for hemoglobin synthesis is defective sickle cell anemia patients, making it rigid and sticky.

“Glutamine”, an amino acid is replaced by “valine”.

This gives rise to defective hemoglobin (hemoglobin S). This defective hemoglobin distorts the RBC (red blood cell) membrane and forms the characteristic sickle-shaped cells.

This defective shape leads to an increase in viscosity of the blood and reduces the flow of blood leading to infarction. It is a common complication in sickle cell anemia patients.

Since these cells are defective, the body’s natural mechanism destroys it causing hemolysis.

Sickling of cells may be precipitated by dehydration, infections, and chills. This may result in sickle cell crisis.

What are the Clinical Symptoms of sickle cell Anemia?

Tiredness, weakness, and fatigue in Sickle cell Anemia patients: since the sickle cells undergo hemolysis, the amount of oxygen transported is very less, leaving the patient weak and tired.

Pain: Episodes of pain is a common feature of sickle cell anemia. It is called sickle cell crises. This occurs because of the increase in viscosity of blood leading to the occlusion of blood vessels causing pain. Pain may occur in the chest, abdomen, muscle, joints and even in bones. Pain in Sickle cell Anemia patients is generally chronic. It lasts from a few hours to weeks and sometimes even the whole year.

Haematuria: Breakdown of RBC’s leads to hemoglobin in the urine which gives a distinct reddish hue to the urine. Patients with sickle cell anemia usually have haematuria.

Swelling in sickle cell anemia patients is due to the obstruction of blood vessels, and blockage of blood flow, there is painful swelling of arms and feet.
Hyperplasia of bone marrow in sickle cell anemia patients: this means the increased growth of bone marrow to compensate for the destruction of blood cells, the body over stimulates the bone marrow. if this occurs in the developmental years, it leads to changes in the shape of the skull, bossing of the skull, protrusive teeth, etc.

Infections due to Sickle Cell Anemia: Increased production and destruction of the blood cells in sickle cell anemia directly affects the spleen. Since the spleen is also responsible for fighting infections, this makes the patient more prone to infections.
Pallor: paleness or pallor is seen on palms.

Heart changes in Sickle Cell Anemia: Due to the viscosity of blood, there is an increase in the size of the heart and a murmur is distinguishable in the heartbeat.

Thrombosis in Sickle Cell Anemia cases: Obstruction to important vessels leads to severe neurological disorders like stroke, convulsions, coma, drowsiness and speech and visual disturbances.
Osteomyelitis: the patients are more prone to develop osteomyelitis.
Facial changes: mongoloid features like high cheekbones, protrusion of the upper jaw (bimaxillary protuberance) are common features.

How is sickle cell anemia diagnosed?

What do the x-rays in Sickle Cell Anemia patients show?

Osteoporosis: This is due to bone marrow hyperplasia

Ground glass appearance: The parts of the bone which are less mineralized appear darker than the other parts which appear whiter. This gives a ground glass appearance.

The hair on end appearance: The skull of the sickle cell anemia patients shows a hair on end appearance
These features, along with the cell picture and clinical symptoms help in the diagnosis of the sickle cell anemia.

What is the treatment available for sickle cell anemia?

There is no permanent cure for the sickle cell anemia. It is a lifelong disorder with a number of complications.

Prevention: Preventing the triggering factors of the sickle cell anemia is one of the key elements as there is no complete cure for it. Genetic counseling of sickle cell anemia couples is necessary to prevent them from inheriting the disease.

Folic Acid Supplements: The doctor may prescribe folic acid supplements of 5mg/day to stimulate new blood cell formation in some sickle cell anemia patients.

Antibiotics: Prophylactic antibiotics are prescribed as the body’s immunity is weak in sickle cell anemia patients.

Analgesics: Analgesics are painkillers. This is to manage the pain in sickle cell crises. Usually, a non-addictive painkiller is advised as the pain is recurrent.

Blood transfusion: In severe cases, a blood transfusion may be given. It should not be done frequently as it increases the viscosity of blood.

Genetic counseling: It is one of the most important preventive measures to be taken by the Sickle Cell Anemia parents to prevent Sickle Cell anemia in their children.

What are the complications of Sickle Cell Anemia?

If the sickle cell anemia is not managed properly, it could lead to various adverse effects:

Stroke: One of the main adverse effects of sickle cell Anemia is stroke due to obstruction of blood vessels of the brain which could lead to permanent damage. This is mainly due to the increased viscosity of blood.

Acute chest syndrome: It is an emergency condition of sickle cell crisis in which there are acute respiratory infections which is due to blockade in the pulmonary blood vessels and an increased tendency for infections. Sickle cell crisis is a common phenomenon in sickle cell anemia patients.

Pulmonary hypertension: There is an increase in the blood pressure of the lungs leading to pulmonary hypertension. This usually affects the sickle cell anemia adults and is a fatal condition. It is characterized by shortness of breath and difficulty in breathing.

Organ damage: Due to ischemia and reduced oxygen supply, the vital organs may get permanently damaged in patients with sickle cell anemia.

Gallstone: Breakdown of the RBC’s lead to a release of a substance called bilirubin. This is responsible for jaundice and formation of gallstones in patients with sickle cell anemia.

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