While some forms of sickle cell disease progress mildly or undetectably, others produce severe illness.

Sickle cell illness is inherited from your parents’ DNA and is present from birth. To get sickle cell disease, you must inherit a related gene from both parents.

A milder type known as sickle cell trait (SCT), which typically doesn’t cause health issues, will develop if you only acquire one parent’s related gene.

Sickle cell illness comes in a variety of forms. Depending on the genes you inherited, most cases fall into one of three subtypes:

• hemoglobin SS (HbSS)
• hemoglobin SC (HbSC)
• hemoglobin (HbS) beta thalassemia

The many forms of sickle cell disease and their management are discussed in this article.

How common is sickle cell disease?

Sickle cell illness is thought to affect between 70,000 and 100,000 people in the US. African Americans or non-Hispanic Black people account for over 90% of cases.

Hemoglobin SS (HbSS)

Your red blood cells include a protein called hemoglobin, which contains iron and enables them to carry oxygen. Hemoglobin A (HbA) is the typical type of hemoglobin. Instead, hemoglobin S (HbS), an unusual type, is produced by the majority of sickle cell disease patients.

Each parent of a person with HbSS carries one faulty gene that codes for HbS.

Hemoglobin SC (HbSC)

Compared to HBSS, HbSC is typically a milder type. The HbS gene is inherited from one parent in people with HbSC. Their other parent gives them a gene that produces hemoglobin C, another form of aberrant hemoglobin.

Hemoglobin (HbS) beta thalassemia

When you inherit the HbS gene from one parent and the beta thalassemia gene from the other, you can develop HbS beta-thalassemia.

Other types

• Hemoglobin SD (HbSD): One aberrant gene for hemoglobin D and one for hemoglobin S are produced by people with hemoglobin S disease.
• Hemoglobin SE (HbSE): One aberrant gene for hemoglobin E and one for hemoglobin S are produced by people with hemoglobin SE.
• Hemoglobin SO (HbSO): One faulty gene for hemoglobin O and one for hemoglobin S are produced by people with hemoglobin S deficiency.
• Hemoglobin AS (HbAS): The HbS gene is inherited from one parent and a normal gene from the other in people with hemoglobin HbAS, also known as SCT.

Sickle cell disease symptoms

The most severe type of sickle cell disease is typically HbSS.

Between the ages of five and six months, signs and symptoms may start to show. They could consist of:

• anemia
• fatigue
• jaundice (yellowing of the skin and whites of the eyes)
• painful swelling in hands and feet

When to contact a doctor

If you or your kid experience any of the following sickle cell disease complications, it’s critical to see a doctor:

• severe pain
• high fever
• sudden weakness or numbness

MEDICAL EMERGENCY

Visit the closest emergency department if you suffer from excruciating pain in addition to:

• fatigue
• fever over 101.3 °F (38.5 °C)
• chest pain, coughing, or shortness of breath
• sudden weakness or numbness on one side
• priapism, an erection lasting more than 4 hours

How are the types of sickle cell disease diagnosed?

During standard blood screening at delivery, doctors typically discover sickle cell disease; but, a diagnosis may occasionally be made while the infant is still in the womb.

Sickle cell disease treatment

The following are some sickle cell disease treatment options:

• Blood transfusions: Receiving blood from a donor is known as a blood transfusion. They can be used to address unexpected problems and alleviate discomfort.
• Gene therapy: Two forms of gene therapy were authorized by the Food and Drug Administration (FDA) in 2023 to treat sickle cell disease. Lomotibeglogene autotemcel and exagamglogene autotemcel are these.
• Blood and bone marrow transplant: Receiving bone marrow stem cells from a donor is a possibly curative procedure known as a blood and bone marrow transplant.
• Hydroxyurea: An oral drug called hydroxyurea can help avoid severe side effects and red blood cell sickling.
• L-glutamine: To assist lower hospitalizations, severe pain, and the need for blood transfusions, L-glutamine is taken as a powder and added to food or beverages.
• Pain medications: Ibuprofen and acetaminophen (Tylenol), two over-the-counter drugs, may be able to help with mild to moderate pain. For extreme pain, doctors may recommend prescription drugs.
• Crizanlizumab-tmca: Once a month, this drug is administered intravenously to assist lower the need for transfusions and stop blood cells from adhering to your blood vessel walls.
• Penicillin: Penicillin is often more effective when started early and can lower the risk of infection in patients with HbSS. The Centers for Disease Control and Prevention (CDC) normally advises taking it daily until at least age five, though your doctor will decide on the appropriate dosage for you.

What’s the life expectancy and outlook for someone with sickle cell disease?

Although it is still improving, the overall life expectancy for people with HbSS sickle cell disease is more than 20 years lower than the norm. HbSS typically has a worse prognosis than HbSC. The course of hemoglobin HbSS and HbS beta thalassemia is often identical.

The typical lifespan of individuals with HbSC has increased to almost 80 years in the US and other resource-rich nations. Individuals with SCT often live long lives.

Frequently asked questions about the types of sickle cell disease

What’s the difference between sickle cell anemia and sickle cell disease?

Types of sickle cell illness that result in severe anemia, such as HbSS, are referred to as sickle cell anemia.

Which is worse, sickle cell SS or SC?

Symptoms of HbSS are typically worse than those of HbSC.

What should a person with sickle cell disease avoid?

Extremely demanding activity may need to be avoided by people with sickle cell disease. They might also gain from abstaining from smoking and alcohol.

What is a sickle cell trait?

When you inherit a sickle cell disease gene from one parent but not both, you are said to have sickle cell trait (SCT). In most cases, it doesn’t lead to health issues.

Takeaway

A collection of illnesses known as sickle cell disease are brought on by inherited genes. The most prevalent kind, HbSS, typically results in the most severe symptoms.

General blood screening is frequently used by medical practitioners to detect sickle cell disease at birth. To lower the chance of complications and improve your prognosis, it’s critical to heed your doctor’s treatment recommendations.