More than 50% of Pakistani children are suffering from anemia, and there are more than 2 dozen well-established causes of that. Sickle cell anemia is also one of the established causes although the estimated prevalence in Pakistani population is roughly 4%. Sickle cell Anemia is caused due to a small genetic defect inherited from parents leading to a change in the shape of Red Blood Cells (RBCs) from ovoid to sickle.
Usually the patients with anemia present with easy fatigability, lethargy, pale complexion and difficulty in achieving milestones. Lower the hemoglobin, severe will be the symptoms. But sickle cell anemia can present in a unique way, commonly known as “Hand-foot syndrome”, with sudden onset of pain in hands and feet of children. Usually, these symptoms are precipitated as “CRISIS” by dehydration or infection and are due to blockage of small vessels by the sickle RBCs. So the physicians should have a high index of suspicion and should carry out special tests like hemoglobin electrophoresis to reach a prompt diagnosis. In families with known sickle cell disease, even the diagnosis is possible before the birth of an individual as early as the 9th week of pregnancy.
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Although there is no specific cure for the disease except for bone marrow transplant most patients can be managed well with proper family counseling and education. Supportive treatment mainly based upon preventing infections and dehydration to avoid crisis episodes along with lifelong folic acid supplementation as well.