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S, C disease

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Also known as:
  • Hb S/C
  • sickle cell hemoglobin C disease
  • hemoglobin S/C disease
  • Hb SC disease

S, C disease (Hb S/C) is an inherited condition of the blood. In a healthy person, red blood cells are a round, donut shape. In a person affected by Hb S/C, some of the red blood cells are a crescent or sickle shape. These unusually shaped cells do not last as long as normal red blood cells and tend to get stuck in blood vessels where they can block the flow of blood to certain parts of the body. If left untreated, it can cause a shortage of red blood cells (anemia), organ damage, or even death. However, if the condition is identified and treated early in life, children with Hb S/C often can lead healthier lives.

Follow-Up Testing

Your baby’s doctor may ask you if your baby is showing any of the signs of Hb S/C (see Early Signs below). If your baby has certain signs, your baby’s doctor may need to treat him or her immediately.

If your baby’s newborn screening result for S, C disease (Hb S/C) was out of the normal range, your baby’s doctor or the state screening program will contact you to arrange for your baby to have additional testing. It is important to remember that an out-of-range screening result does not necessarily mean that your child has the condition. An out-of-range result may occur because the initial blood sample was too small or the test was performed too early. However, a few babies do have the condition, so it is very important that you go to your follow-up appointment for a confirmatory test. Because signs of Hb S/C can develop shortly after birth, follow-up testing must be conducted as soon as possible to determine whether or not your baby has the condition.

Follow-up testing will involve looking at the red blood cells in a sample of your baby’s blood. If your baby has Hb S/C, he or she may have a reduced number of red blood cells or abnormally shaped red blood cells. Clinical genetic testing for Hb S/C is available and may be necessary to confirm the diagnosis.


About S, C disease

Early Signs

Signs of S, C disease (Hb S/C) usually begin a couple of months after birth. In some cases, signs may not appear until childhood.

Early signs of Hb S/C include:

  • Sleeping longer or more often
  • Tiredness
  • Difficulty breathing
  • Pain or swelling in the hands or feet
  • Cold hands or feet
  • Pale skin

These signs can occur if your baby has a low number of red blood cells or if the crescent/sickle shaped red blood cells stick together and block a blood vessel.

If your baby shows any of these signs, be sure to contact your baby’s doctor immediately.

Treatment
Fluids

Dehydration occurs when an individual does not have enough fluid in his or her body.  Babies with S, C disease (Hb S/C) need to get plenty of fluids because dehydration can increase the pain associated with Hb S/C.

Medications 

Children with Hb S/C may need pain medication.  Pain associated with Hb S/C can usually be managed through over-the-counter painkillers like Tylenol.  If it continues or becomes severe, your baby’s doctor may prescribe stronger medicines.

If your baby has Hb S/C, he or she may develop repeated infections, especially during childhood.  Your baby’s doctor may prescribe a daily dose of antibiotics to help prevent these infections.

Your baby’s doctor may also prescribe Hydroxyurea if your baby’s Hb S/C is severe. This medication prevents anemia (low levels of red blood cells) by keeping the red blood cells from becoming sickle or crescent-shaped.

Blood Transfusions

Some children with Hb S/C may need a blood transfusion because they do not have enough healthy red blood cells. In this procedure, blood from a healthy individual is given to someone with Hb S/C.

Expected Outcomes

Treatments can help relieve some of the signs, symptoms, and complications of S, C disease (Hb S/C). Children who receive early and on-going treatment can live healthy lives.

Even with proper treatment, your child may still experience some signs and symptoms such as pain, anemia, and yellowish skin (jaundice). The more carefully you follow your child’s treatment plan, the healthier he or she can be.

It is important to screen for and treat Hb S/C because, if left untreated, babies with a severe form of the condition can die within their first year of life.

Causes

Every cell of the human body needs oxygen.  One responsibility of our blood is to bring the oxygen we breathe from our lungs to the different parts of our body. Round or donut-shaped red blood cells carry the oxygen in the blood and can move easily through our blood vessels.

Babies with S, C disease (Hb S/C) do not make enough healthy red blood cells. If you baby has Hb S/C, his or her body makes some red blood cells that are crescent or sickle shape rather than a round donut shape.  These unusually shaped cells do not live as long as normal red blood cells. This can lead to a condition called anemia, in which there is a very low number of red blood cells in the bloodstream.

The sickle or crescent shaped cells also tend to get stuck in blood vessels. When this happens, some parts of the body may not get enough blood.If red blood cells are not able move through the blood vessels, the body cannot get enough oxygen. This can cause many of the signs mentioned in Early Signs.

S, C disease (Hb S/C) is an autosomal recessive genetic condition. S, C disease (Hb S/C) occurs when a child inherits two non-working genes, one from each parent: one gene with the S trait (sickle cell anemia trait) and one gene with the C trait (hemoglobin C disease trait). Both sickle cell anemia and hemoglobin C disease are genetic conditions that affect the quality of the red blood cells.

The parents of a child with S, C disease (Hb S/C) each carry a single copy of one of these non-working genes, but they typically do not show signs and symptoms of the condition. While having a child with S, C disease (Hb S/C) is rare, when both parents are carriers, they can have more than one child with the condition. Learn more about autosomal recessive inheritance.


Support for S, C disease

Support Services

Support groups can help connect families who have a child or other family member affected with S, C disease with a supportive community of people who have experience and expertise in living with the condition. These organizations offer resources for families, affected individuals, health care providers, and advocates.

Accessing Care

Work with your baby’s doctor to determine the next steps for your baby’s care. Your baby’s doctor may help you coordinate care with a doctor who specializes in hematology (blood conditions) or other medical resources in your community. A team of specialists can work with your child and family to create an individualized treatment plan.

Because S, C disease is a genetic condition, you may want to talk with a genetics specialist. A genetic counselor or geneticist can help you understand the causes of the condition, discuss genetic testing for sickle cell anemia, and understand what this diagnosis means for other family members and future pregnancies. Speak with your baby’s doctor about getting a referral. The Clinic Services Search Engine offered by the National Coordinating Center for the Regional Genetic and Newborn Screening Service Collaboratives and the Find a Genetic Counselor tool on the National Society of Genetic Counselors (NSGC) website are two good resources for you or your baby's health care provider to use to identify local specialists.

Families' Experiences

At this time we have not located a family story for this particular condition. If your family is affected by S, C disease and you would like to share your story, please contact us so other families may benefit from your experience.


States Screening for S, C disease

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