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| |    The Subtle Differences of Sickle Cell Syndromes by Laura Jana, M.D., F.A.A.P. reviewed by Lewis Hsu, M.D., Ph.D. All sickle cell syndromes share one thing: structurally abnormal hemoglobin. Hemoglobin, which is a key component of red blood cells, is responsible for adequately delivering oxygen throughout the body and keeping red blood cells from deforming and losing function. Various defects in the hemoglobin gene, found on chromosome 11, can result in several types of abnormal hemoglobin, including Hemoglobin S (sickle hemoglobin), HbC, HbD, and HbO-Arab. Distinguishing between types Oftentimes when people discuss sickle cell disease, they're actually referring to sickle cell anemia. In sickle cell anemia, the gene for sickle hemoglobin is inherited from both parents and results in the production of only abnormal sickle hemoglobin. The same sickling of red blood cells shows up in lesser-known forms of the disease as well. The most common are sickle hemoglobin C, often called "SC disease," and sickle beta thalassemia, or "sickle beta thal." In sickle hemoglobin C disease, one parent passes down the gene for sickle hemoglobin, while the other parent contributes the gene for the abnormal C type of hemoglobin. The result is commonly referred to as HbSC. Similarly, a child with sickle beta thal also has one gene that makes sickle hemoglobin. But the other half of the equation, the beta thalassemia gene, produces either poorly functioning hemoglobin or none at all. In this situation, the majority--if not all--of the resulting hemoglobin is sickle hemoglobin. So sickle cell disease results not only from the inheritance of two sickle hemoglobin genes, but also from one sickle hemoglobin gene combined with another abnormal hemoglobin gene. While certain differences mark each of these syndromes, the resulting symptoms are quite similar. Sickle cell trait If a child inherits a normal hemoglobin gene (HbA) along with the sickle hemoglobin gene, the result is called sickle cell trait (HbAS). This means that the child is a carrier of the sickle cell trait, and as such, he has a 50 percent chance of passing the trait on to his children someday. Although the trait is present, carriers typically don't experience problems with their red blood cells. However, they may see blood intermittently in their urine, and they run a greater-than-normal risk of developing urinary tract infections. In rare cases in which carriers are exposed to extreme conditions, they may experience pain episodes or problems with their spleen. If your child has sickle cell trait, make sure that you alert his healthcare provider so that it can be taken into consideration when he receives medical care.
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