Sickle Cell Anemia

Overview

Sickle cell anemia also called sickle cell disease, is a major genetic disease that affects the red blood cells (RBCs). Generally, RBCs have disc-like shapes, which give them the flexibility to move even through the smallest blood vessels.

Nevertheless, with sickle cell anemia, the red blood cells have an abnormal crescent shape that resembles a sickle. They become sticky and rigid, which makes them prone to getting stuck in the small blood vessels.

The outcome of such blockage is that blood fails to reach different parts of the body, which leads to pain and tissue damage.

Most people with sickle cell disease (SCD) are born in sub-Saharan Africa, where there is limited access to high-intensity medical care. SCD remains one of the most common genetic diseases in the world.

More than 300, 000 babies are born with sickle cell disease every year. Most of these cases are in sub-Saharan Africa because of limited access to medical care.

World Health Organization reports that this number is expected to increase up to 400, 000 individuals by 2050. Nigeria, India, and the Democratic Republic of Congo are home to about 90% of the world’s sickle cell anemia population.

There is no cure for people with sickle cell anemia, but treatments exist that can relieve pain and help prevent complications associated with the disease.

Symptoms

The major symptoms and features of sickle cell anemia include:

  • Pain
  • Fatigue and anemia
  • Aplastic crisis – serious complication because of infection with B19V
  • Bone pain
  • Acute and chronic pain
  • Splenic sequestration
  • Infection
  • Growth retardation – delayed sexual maturation and being underweight
  • Pulmonary hypertension
  • CNS involvement: severe manifestation is a stroke
  • Acute chest syndrome
  • Hand-foot syndrome
  • Cardiac involvement: dilation of both ventricles and the left atrium
  • Avascular necrosis of the femoral or humeral head
  • Splenic sequestration
  • Ophthalmologic involvement: retinal vascular changes, ptosis, proliferative retinitis
  • GI involvement: Cholelithiasis is common in children
  • Dermatologic involvement
  • GU involvement

Causes

Sickle cell anemia is caused by a gene that interferes with how red blood cells develop. Precisely, SCD is caused by a mutation in the gene that instructs the body to produce a red, iron-rich compound that gives blood the red color (hemoglobin).

Hemoglobin permits red blood cells to carry oxygen from the lungs to other parts of the body. People with sickle cell anemia have abnormal hemoglobin that makes red blood cells to become sticky, rigid, and misshapen.

The gene is passed from one generation to another through a pattern of inheritance known as autosomal recessive inheritance. It means that for a child to be affected, both mother and father must pass on the defective form of the gene.

In other words, if both parents have the gene, there is a 25% chance that each child they get will be born with sickle cell disease. If only a single parent passes the gene to the child, the newborn will have the sickle cell trait.

Individuals with sickle cell trait have one normal hemoglobin and one abnormal hemoglobin. In this case, these people make both normal hemoglobin and sickle cell hemoglobin.

It means that their blood may contain certain sickle cells, but they cannot show the symptoms, although they remain a carrier of the disease and can pass it to their children.

Risk Factors

The only risk factor associated with sickle cell anemia is when both parents have sickle cell hemoglobin. A baby born in such a family is at direct risk of being born with the disease.

Diagnosis

The doctor will ask for family history and symptoms.

The doctor will then use a microscope to check for abnormal sickle-shaped cells in the blood.

Sickle prep, which is testing the blood, is done through smearing blood using special low-oxygen preparation and examined using the microscope. Other prep tests help to detect abnormal hemoglobin S, including solubility tests.

Hemoglobin electrophoresis is also used to quantify the types of hemoglobin present.

At the same time, chorionic villus sampling or amniocentesis is performed to diagnose sickle cell anemia before birth – prenatal diagnosis.

Treatment

As mentioned, sickle cell anemia has no cure, but it can be managed through engaging treatment that relieves pain and other symptoms.

Precisely, hemoglobin disorders can be effectively reduced through a strategic balance of prevention programs and disease management. Sickle-cell disease can be managed through simple processes such as:

  • Healthy diet
  • High fluid intake
  • Folic acid supplementation
  • Different therapeutic measures
  • Pain medication
  • Vaccination and antibiotics for preventing and treating infections

Prevention programs include undertaking blood tests before settling down as husband and wife to help couples to discuss the health of their family before marriage or getting children.

Prenatal screening is equally significant before marriage or pregnancies to prevent the disease.

Sometimes patients with sickle cell anemia require regular blood transfusions to maintain an adequate supply of hemoglobin and sustain life.

However, frequent blood transfusion is associated with a condition called thalassaemia, and thus, people should be careful with it.

For more information on diagnosis and/or treatment, speak to a doctor, or get access to a hospital near you through the Uzima Health App.