Sickle Cell Disease

Understanding Sickle Cell Disease: A Brief Overview

Sickle cell disease (SCD) is a group of inherited blood disorders that affect the shape and function of red blood cells. Normally, red blood cells are round and flexible, allowing them to move easily through blood vessels. In people with SCD, these cells become hard, sticky, and shaped like a crescent or sickle.

These sickle-shaped cells can get stuck in small blood vessels, slowing or blocking blood flow and oxygen to parts of the body. This can lead to episodes of severe pain, called sickle cell crises, along with other complications such as infections, stroke, and organ damage.

Sickle cell disease is caused by a mutation in the gene that tells the body to make hemoglobin—the protein in red blood cells that carries oxygen. A person inherits the disease when they receive two sickle cell genes, one from each parent.

While there is no universal cure, treatments like pain management, blood transfusions, and medications such as hydroxyurea can help reduce symptoms and complications. Bone marrow or stem cell transplants offer a potential cure for some patients but are not widely accessible.

Early diagnosis, routine medical care, and awareness are key to helping people with sickle cell disease lead healthier, more fulfilling lives.

Is there a blood test? Yes, there is a blood test for sickle cell disease. In fact, several tests can detect the disease or determine if someone is a carrier. Here are the most common ones:

1. Newborn Screening

• In many countries, including the U.S., all newborns are screened for sickle cell disease at birth.

• This test uses a small blood sample from the baby’s heel and can detect both the disease and the carrier (trait) status.

2. Hemoglobin Electrophoresis

• This is the most common diagnostic blood test for sickle cell disease.

• It measures the different types of hemoglobin in the blood. People with SCD will have mostly hemoglobin S, while healthy individuals have mostly hemoglobin A.

3. Sickle Cell Solubility Test

• This test looks for the presence of hemoglobin S. It is often used as a screening test in adults but cannot distinguish between sickle cell trait and sickle cell disease.

4. DNA Analysis

• In cases where hemoglobin electrophoresis is unclear, DNA testing can confirm the presence of sickle cell mutations.

• This is also used in prenatal testing.

Summary:

If you're wondering whether you or your child has sickle cell disease—or if you're a carrier (sickle cell trait)—a simple blood test can provide answers. If you have a family history or are part of a high-risk group (such as people of African, Mediterranean, Middle Eastern, or Indian ancestry), it’s a good idea to get tested.