Sickle cell disease

Sickle cell disease is an inherited blood cell disorder. In a normal blood cell, the red blood cell is disc-shaped, flexible and looks like a doughnut without a hole. They move through small blood vessels to supply oxygen to various parts the body. But in a patient with sickle cell disease, the red blood cells are hard, sticky and look like a sickle used in farming. Sickle cells, unlike normal red blood cells, die early, which leads to a constant shortage of red blood cells. In some cases, when sickle red blood cells travel through small blood vessels, they get stuck and clog the blood flow, which can cause acute chest pain and stroke.

 

Symptoms of Sickle cell disease

The signs and symptoms of sickle cell disease vary from person to person and usually appear around 6 months of age. They can be:

  • Anemia: Whereas red blood cells usually live for about 120 days before death and replacement, sickle cells typically die within 10 to 20 days, leaving a shortage of red blood cells. This blood shortage is called Anemia. Without enough blood cells, there won’t be enough supply of oxygen to the body parts and this cause fatigue.
  • Swelling of hands and feet: Most times, sickle red blood cells cause a blockage of the small blood vessels, thereby limiting the supply of blood to parts of the body. As a result, the hands and feet swell up.
  • Retarded growth: A shortage of red blood cell, which supply oxygen and nutrients to the body can cause growth retardation and delay puberty in teenagers.
  • Frequent infections: Sickle cells can damage the spleen and cause increasing vulnerability to infectious diseases. To prevent this, infants and children are constantly administered antibiotics to prevent potentially life threatening infections.

 

Types of sickle cell disease

Various types of SCD exist, among which are:

HbSS

People who have HbSS inherit two sickle cell genes “S” from both parent. This type of SCD is commonly called sickle cell anemia and is the most severe form of the disease.

 

HbSC

In this form of SCD, the patient inherits a sickle gene “S” from one parent, and a gene for abnormal hemoglobin called “C” from another parent.

 

HbS beta thalassemia

People who suffer this form of SCD inherit one sickle cell “S” gene from one parent and a beta thalassemia from another parent. Beta thalassemia are of two types; the “O” and “+”. Those with the HbS beta-O-thalassemia usually suffer severe form of SCD while people who have HbS beta-+-thalassemia tend to have milder form of SCD.

 

Other types of Sickle cell disease, which are rare, include HbSD, HbSE, and HbSO. People with these forms usually inherit one “S” gene from one parent and the other D, E, or O gene from another parent.

 

Causes of sickle cell disease

Sickle cell disease is genetic condition that occurs when a child receives two sickle cell genes from the parents.

 

Complications and treatments

Some of the complications and treatments of SCD include:

Small hand-foot syndrome

This is usually the first symptom of SCD. It is accompanied by a fever and can be treated by giving the patient pain relieving medications, such as Ibuprofen and aspirin, and also an increase in body fluids, like water.

Anemia

This is a very common complication of SCD. The early death of red blood cells associated with sickle red blood cells causes a shortage of healthy red blood cells that can carry oxygen throughout the body. Anemia can be treated by avoiding multiple blood transfusions, which may lead to hemosiderosis due to iron overload and may cause damages on the liver, heart, pancreas, and other organs. It can also lead to diabetes mellitus.

Splenic sequestration

Most times, a large number of sickle cells gather and are trapped in the spleen. This causes the spleen to become swollen and large. Treatment of this kind is by blood transfusion. The expertise of a specialist is however needed in transfusing blood into the patient’s body.

Loss of vision

When the blood capillaries supplying oxygenated blood to the eyes become blocked, by sickle cells, and the retina become damaged, the patient will experience impairment in vision. This can be treated with a Laser.

 

Deep vein thrombosis (DVT) and Pulmonary embolism (PE)

Sickle red blood cells can increase blood coagulation and induce an increased risk of blood clot DVT or in PE if the blood clot moves from deep veins. DVT and PE cause can cause serious disabilities and, in some cases, death.

 

Prevention of sickle cell disease

To prevent sickle cell disease, seeing a genetic counselor before getting married and conception is important. It is advised that two persons who are carriers of sickle cell genes should not marry to prevent the eventual sickle cell children.