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text 2021-07-13 16:16
PHYSIOLOGY AND PATHOLOGY OF SICKLE CELL ANEMIA

The human body is created astonishingly. Every part and system is precise and perfect in performing its desired functions. Blood is one of the core bases of life. If the blood functioning is disrupted due to any reason, then the consequences can be very severe, chronic, and sometimes fatal. The associated blood diseases sometimes tend to follow a genetic or inherited pattern. The blood abnormality we are about to discuss today is strictly genetic and can be fatal at times.

 

WHAT IS SICKLE CELL ANEMIA:

 

Sickle Cell Anemia or Sickle Cell Disease (SCD) is a blood disease following a genetic trial. In this disease, the regular disc shape of the Erythrocytes becomes abnormal sickle or crescent-shaped. The erythrocytes, due to irregular shape transformation, find it difficult to pass the blood vessels. It also affects the oxygen-carrying capacity of the Red Blood Corpuscles.

The sickle-shaped Erythrocytes become rigid and prone to getting stuck in the blood vessels causing cytological and histological damages within the body.

 

SYMPTOMS OF SICKLE CELL ANEMIA:

 

Every medical abnormality is followed by sure signs and symptoms that help in diagnosing the disease. Following the same, the prime symptoms that help in identifying sickle cell anemia are given below:

 

  • Hemolysis: 

Rapid destruction of erythrocytes. 

 

  • Optic Dysfunction:

The patient is observed to suffer from an incurable vision problem as the tiny optic vessels get plugged, causing damages to the retina and the vision automatically.

 

  • Adema:

Swelling and over swelling of hands and feet mainly. In cases, swelling is observed on the whole body.

 

  • Jaundice:

The eyes and skin turn yellow, followed by weakness.

 

  • Frequent Infections

The patient suffers from infection frequently, which ends up weakening the immune system of the patient. Damage of the spleen causes fatal and chronic conditions in the patient.

 

  • Anemia:

Due to the rapid destruction of the erythrocytes, the patient suffers from anemic critical conditions. It is one of the significant symptoms of sickle cell anemia.

 

CAUSES OF SICKLE CELL ANEMIA:

 

  • Genetic Cause:

Sickle cell anemia is caused by the mutation in the gene that is responsible for carrying the relevant genetic information about the production of hemoglobin (the iron-rich compound that gives the blood its red color, enabling the erythrocytes to carry the oxygen from the lungs throughout the human body.

 

  • Congenital Cause:

The transferring of the mutated gene is also in the body of the fetus,

 

MEDICAL COMPLICATIONS OF SICKLE CELL ANEMIA: 

 

Acute Chest Syndrome:

The life-threatening condition in which the sickle cell erythrocytes block the blood vessels of the lungs causing difficulty in breathing. Sometimes it may lead to Pneumonitis (inflammation in the lungs).

 

Leg Ulcer:

Swelling is observed on the entire body, including the legs and hands particularly. This condition is termed a leg ulcer.

 

Organ damage:

Lack of oxygen-rich blood in the organs causes dysfunction of the organs, including kidney, liver, spleen, etc. In many observed cases, the deficiency of oxygen-rich blood had been fatal to the patients. 

 

Eye abnormalities:

Blockage in the eye vessels of the body can cause severe damages to the visions and visuals of the patient.

 

Neurological Complications:

Oxygen-Rich blood is most important for the proper functioning of our brain. The deficiency of oxygen can cause severe damages to the brain resulting in epilepsy, seizures, and strokes. 

 

Sometimes the patient is observed to slip into a comma. All of these abnormalities are caused by the blockage of the brain.

 

Delayed Growth:

The retardation of physical growth is observed in the children specifically. It is a possibility that the children face delayed development in their childhood, but they might retain their growth usually in their adulthood.

 

Sex maturation is also an evidential complication observed as a consequence of sickle cell anemia.

 

LABORATORY DIAGNOSIS:

Blood Tests:

As sickle cell anemia is a blood-associated disease, so blood diagnosis is the best cheap and reliable test to diagnose the condition.

 

  • CBC or Complete Blood Count:

 

Helps in estimating the count of erythrocytes in the blood. Decreased amount of RBCs proves that the patient is facing some severe hemolytic effects.

 

  • Blood Smears:

 

The formation of blood smears aids in estimating the average and contracted number of cells circulating in the blood.

 

  • Sickle solubility test:

 

This test helps graph the concentration of hemoglobin (Hb) in the blood. Decreased concentration will increase the possibility of the disease.

 

TREATMENT:

 

Bone Marrow Transplant:

 

Sickle cell anemia is difficult to treat with drugs and medications. The most effective way to cure this disorder of blood is a bone marrow transplant. As the disease causes hemolysis (destruction of RBCs), bone marrow transplant will aid in the formation of new blood cells decreasing the destructions of the cells.

 

Medications to increase fetal hemoglobin:

 

Droxia and Hydrea help in increasing the fetal hemoglobin in the body.

Sickle cell anemia can be fatal and can cause death if not treated on time. You can get many resources like Researchomatic, Wikipedia, etc from where you can get more details about the said topic.

Source: www.researchomatic.com/sickle-cell-anemia-icon-of-evolution-158753.html
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