![]() Differential diagnosisÄifferential diagnoses include other hereditary hemolytic diseases, and those with recurrent vascular obstruction. Screening of healthy carriers, by family or by population surveys, helps prevention but requires prospective genetic counseling. Diagnostic methodsÄiagnosis is based on analysis of hemoglobin using isoelectric focusing or capillary electrophoresis combined with HPLC, solubility test (Itano test) and molecular analysis. Under deoxygenated conditions, HbS polymerizes and thereby alters the shape and function of erythrocytes, triggering a cascade of events that leads to hemolysis, vascular occlusion, reduced bioavailability of nitric oxide, and endothelial injury. There are other forms of sickle cell disease are due to compound heterozygosity for the HbS gene and other hemoglobin (Hb) variants. SCA is due to homozygous mutations (rs334) in the beta globin gene, HBB (11p15.4) this variant is termed HbS. Over the course of time, VOAs may compromise the integrity of tissues or organs. In addition to anemia and bacterial infections, VOAs cause hyperalgic focal ischemia (and sometimes infarction) when they occur in the abdomen, chest or skeleton. Clinical manifestations evolve with age and are extremely variable between individuals and at different times. The disease does not manifest during fetal life or up to the first three months of life due to the presence of high levels of fetal hemoglobin. In Europe, the pooled birth prevalence is 1/2,300, although this varies between countries. The birth prevalence varies according to region, with prevalence greatest in regions affected by holoendemic malaria. Worldwide, it is estimated that there are over 400,000 newborns with sickle cell anemia. Sickle cell anemia (SCA) is the most common form of SCD.
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