Sickle Cell Disease is a group of inherited blood disorders that center on red blood cells which can function abnormally resulting in small blood clots, chronic anemia, painful events, and potential complications associated with tissue and organ damage. These blood disorders include sickle cell anemia, Mediterranean blood disease, the sickle beta thalassemia syndromes, and hemoglobinopathies in which the sickle cell hemoglobin is in association with other abnormal hemoglobin in sufficient concentration to cause the red blood cell to sickle.
These Treatments Options can include :
Bone Marrow Transplantation
Supplementation with Folic Acid
Primary screening for hemoglobinopathies is by isoelectric focusing (IEF) of blood eluted from a dried blood spot. IEF separates the hemoglobins and identifies most common variants by band mobility. DNA probes which specifically identify HbS, HbC, HbE, HbO Arab and HbD are used to confirm abnormal findings by IEF. Reduced HbA and second tier DNA testing for common beta thalassemia mutations help to identify beta thalassemias. The presence of Hb Barts and/or Hb H in the IEF pattern detects alpha thalassemia.