What Is It?

Sickle cell disease is a disease that affects a special protein inside our red blood cells called hemoglobin. Red blood cells have an important job. They pick up oxygen from the lungs and take it to every part of the body. It is the hemoglobin in these cells that carries the oxygen to different parts of the body.

Normal hemoglobin is called Hemoglobin A. The person with sickle cell disease makes a different kind of hemoglobin called Hemoglobin S. This causes the red blood cells to change their shape. Instead of being smooth and round, the cells become hard and sticky. Their shape looks like a banana or like a sickle, a hand tool used to cut wheat or tall grass. It is this sickle shape of the red blood cells that gives "sickle cell" disease its name.

The hard, sticky sickle red blood cells have trouble moving through small blood vessels. Sometimes they clog up these blood vessels so that blood can't bring oxygen to the tissues. This can cause pain or damage to these areas.

What Causes Sickle Cell Disease

Sickle Cell Disease is an inherited disease. That means it is passed from parents to their children through their genes. Genes are our body's map for development. Hemoglobin is made by two types of genes: alpha globin and beta globin.

The sickle gene is a change or mutation of the beta globin gene. We get one beta globin gene from our father and one gene from our mother. Each of our parents has two genes for hemoglobin, but they pass only one of these genes on to each child. Which gene is passed on is a matter of chance, like having a boy or a girl. To inherit sickle cell disease, a child must get the sickle (S) gene from one parent and a sickle (S), C, or other abnormal beta globin gene from the other parent. If a baby inherits at least one normal beta globin gene, he won't get sickle cell disease. If both parents have a hemoglobin trait, then you could not get sickle cell, have sickle cell trait, or have sickle cell disease.

A trait is NOT a disease. People with a hemoglobin trait are healthy. They do NOT have a mild case of the disease. Traits never change into sickle cell disease. Most of the time, Hemoglobin S trait or other abnormal hemoglobin traits do not cause health problems.

Chance of Having Sickle Cell

 

What Are the Symptoms?

Every child will experience symptoms differently in sickle cell disease. Some could include:

• Anemia
• Pain crisis
• Acute chest syndrome
• Splenic sequestration
• Stroke
• Jaundice

How Is It Diagnosed?

Newborn screening tests are done routinely to test for sickle cell disease. There are also blood tests and a complete family history to help in diagnoses.

What Are the Treatments?

Specific treatment is done individually so as to have a care plan based on your child's age, weight, and tolerance for certain medications. Some options could include:

• Penicillin
• Folic acid
• Drinking lots of water
• Pain medications
• Blood transfusions
• Hydroxyurea
• Bone marrow transplant

Why Should a Child with Sickle Cell Disease See a Pediatric Hematologist?

Pediatric hematologists are doctors who specialize in blood diseases in children. Children treated for sickle cell disease by a pediatric hematologist will receive specialized care based on their type and symptoms of sickle cell disease. These children need special testing and treatment to prevent serious complications from their sickle cell disease.

As children grow up to be adults, they should see an adult hematologist with experience caring for people with sickle cell disease.

Are There New Treatments Available?

Doctors are learning more about sickle cell disease all the time. Patients and their families may choose to participate in research studies to help us understand sickle cell disease better. Some research studies only need an extra blood test, while others compare different treatments to decide which one works best. You can ask your child's doctor about being a part of research studies.

What Is the Long Term Outlook?

Children can lead lives like other people. While they may miss school or go to the doctor more often than others, their lives are full and happy. Today's children with sickle cell disease can graduate from school, have jobs, and have children. They are living longer, healthier lives.