Sickle cell disease

What is sickle cell trait?

Sickle Cell Trait (AS) is an inherited condition which affects the hemoglobin in your red blood cells. It is important to know if you have sickle cell trait. Sickle cell trait is inherited from your parents. If one parent has sickle cell trait, there is a 50% (1 in 2) chance with each pregnancy of having a child with sickle cell trait. Sickle cell trait rarely causes any health problems.

Some people may develop health problems under certain conditions, such as:

» Dehydration – from not drinking enough water

» Low oxygen – from over-exertion

» High altitudes – from low oxygen levels

What is sickle cell disease?

Sickle cell disease (SCD) is a group of inherited red blood cell disorders.

Who requires BMT?

» Hemoglobin is the protein in red blood cells that carries oxygen throughout the body.

» Each person inherits two hemoglobin genes, one from each parent. A normal gene will make normal hemoglobin (A). A specific change in the hemoglobin gene will make sickled hemoglobin (S).

» In SCD, the red blood cells become hard and sticky and look like a C-shaped farming tool called a sickle.

» Sickle cells can get stuck in small blood vessels and block the flow of blood and oxygen to organs within the body. These blockages can cause many problems.

» The most common types of sickle cell disease are hemoglobin SS, hemoglobin SC, and sickle beta thalassemia.

What are the potential health problems of sickle cell disease?

Infections

The spleen helps the body fight infections. Sickle cells may get caught in the spleen, preventing it from working as well as it should. As a result, people with sickle cell disease are more likely to get infections. Children are put on antibiotics until their immune system matures.

Anemia

Sickle cells do not live as long as normal red blood cells. This causes anemia, or a low blood count. Anemia can cause weakness and fatigue.

Pain

Sickle cells that get caught in the small blood vessels of the body cause the interruption of oxygen and blood flow; these sickling crises can be very painful. This includes pain and swelling of the hands and feet in small children.

Acute Chest Syndrome

Blockage of the flow of blood to the lungs can cause acute chest syndrome (ACS). ACS is similar to pneumonia; symptoms include chest pain, coughing, difficulty breathing, and fever. It can be life threatening and should be treated in a hospital.

Stroke

Sickle cells can clog blood flow to the brain and cause a stroke. A stroke can result in lifelong disabilities and learning problems. Children under 16 are at the highest risk for stroke.

Jaundice

This is a yellowing of the eyes and skin. It is painless and occurs because of rapid breakdown and death of sickled red blood cells.

Leg Ulcers

Poor circulation due to blockage of blood vessels by sickle cells can lead to sores that are difficult to heal. These often occur around the ankles. Complications During

Leg Ulcers

A woman with sickle cell disease can have a healthy baby. However, risks are involved; both she and the baby should be closely monitored by a healthcare provider. Prenatal care is very important!

Other problems include?

» Chest pain and trouble breathing» chest pain and trouble breathing

» Organ damage

» Gallstones

» Blood in the urine

» Eye disease

» Painful erections in men

How do you know if you have sickle cell trait or disease?

A simple blood test called a hemoglobin electrophoresis can determine your sickle cell status. Talk with your healthcare provider if you have more questions about sickle cell trait or want to be tested. It is important to know if you have sickle cell trait (are a sickle cell carrier) before you decide to have children

How is sickle cell disease managed?

Individuals with sickle cell disease should receive regular medical care from a hematologist and a general medical care provider. Routine care is very important! Treatments may include a medication called hydroxyurea which increases the body’s level of fetal hemoglobin which prevents sickling, as well as antibiotics for infections or prevention of infections, and medicines for painful events.

Everyone should eat a balanced diet, and receive regular check-ups and immunizations. Children with sickle cell disease require a few special immunizations. A yearly flu shot is also recommended Vitamin supplements: extra folic acid is usually recommended. This helps the body to make new red blood cells

Avoid factors which can trigger sickling include:

Indications for stem cell/bone marrow transplantation (BMT) in sickle cell disease

• • Patients with sickle cell disease (SCD) at high risk for disease-related morbidity or mortality defined by
• • Overt stroke
• • Pulmonary hypertension as defined by cardiac catheterisation
• • Patients requiring long-term transfusion therapy for other sickle-related complications
• • Patients with potentially reversible complications not ameliorated by HC
• • Vaso-occlusive crises and/or acute chest syndrome (≥3 hospital admission per year while on maximal tolerated dose of HC)
• • Patients unable to receive transfusion therapy due to alloimmunisation or Hyperhaemolysis