Hemoglobin C Disease in Children What is hemoglobin C disease?Hemoglobin is the part of red blood cells that carries oxygen to cells, tissues, and organs. Hemoglobin C disease is caused by abnormal hemoglobin. What causes hemoglobin C disease? Hemoglobin C disease is inherited. This means it is passed down from parents to children. A person may be a carrier, called hemoglobin C trait. They have no symptoms. Or a person may have hemoglobin C disease. Those with the disease may or may not have symptoms. A baby born to parents who each carry the trait has a 1 in 4 chance of having hemoglobin C disease. In the U.S., hemoglobin C is most common in African-Americans. People of Caribbean, Italian, and Greek descent also have a higher risk. What are the symptoms of hemoglobin C disease? Most people with hemoglobin C disease don't have symptoms. But they can have low red blood counts or anemia. This can cause fatigue, weakness, pale skin and other symptoms. For those with hemoglobin C who have symptoms, they may include: Enlarged spleen Gallstones Episodes of joint pain Increased risk for infection How is hemoglobin C disease diagnosed? The disorder is often found during newborn screening blood tests. Blood tests for hemoglobin C disease include: Complete blood count, or CBC. A complete blood count checks the red and white blood cells, blood clotting cells (platelets), and sometimes, young red blood cells (reticulocytes). It includes hemoglobin and hematocrit and details about the red blood cells. Peripheral smear. A small sample of blood is checked under a microscope to see if the cells look normal. Hemoglobin electrophoresis. This test measures the different types of hemoglobin. How is hemoglobin C disease treated?Hemoglobin C disease is a chronic condition, but it often doesn't need any treatment. The anemia that develops is mild and rarely interferes with everyday life. Neither children nor adults need any special therapy, vitamins, or iron supplements to treat hemoglobin C disease. What are the complications of hemoglobin C disease? Hemoglobin C disease usually requires no special medical attention. Sometimes complications can develop, including: Anemia that requires treatment Infections Enlarged spleen Gallstones Vision problems due to changes in the retina When should I call my child's healthcare provider? Call your child's healthcare provider if you or your child has: Frequent or lasting infections Symptoms of gallstones such as pain in the upper abdomen or back, especially after eating Key points about hemoglobin C disease Children with hemoglobin C disease usually do not have symptoms. If they do, they may have mild anemia. Treatment is usually not needed. Although complications are not common, they can occur. Next stepsTips to help you get the most from a visit to your child’s healthcare provider: Before your visit, write down questions you want answered. At the visit, write down the names of new medicines, treatments, or tests, and any new instructions your provider gives you for your child. If your child has a follow-up appointment, write down the date, time, and purpose for that visit. Know how you can contact your child’s provider after office hours. This is important if your child becomes ill and you have questions or need advice. Medical Reviewers: Freeborn, Donna, PhD, CNM, FNP Holloway, Beth, RN, M.Ed.