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Saturday, September 19, 2015

Sickle Cell Anemia is a Blood Disorder.

    Base on the OMS statistics, 7% of the world's population are carrier of this blood abnormality. The early diagnose must be done, if not during gestation, through the Newborn Screen.  It is estimated that about 3,000 children are born with sickle cell disease each year in Brazil and 200,000 with sickle cell trait. Sickle cell anemia is the most common hereditary disease in Brazil, Africa, Central America and the United States. It is caused by a genetic mutation in hemoglobin, making the abnormal red blood cells and giving the shape of a sickle, so the denomination. In southeastern Brazil, the prevalence of abnormal gene is 2.4% (trait). In the Northeast reaches between 4% and 6% rising to up to 10% among blacks. According to the OMS, in Brazil there are more than 2 million white or black carriers of of sickle cell trait. 
      In general, the parents are asymptomatic carriers of the sickle cell gene (have an altered gene and do not develop the disease), but pass the altered gene to the child (when the abnormal gene comes in double dose, father and mother = homozygote ). It is estimated that each year about 1,000 babies may be born with the disease (two abnormal genes). The clinical symptoms may be present already in the first weeks of life, however in many individuals, symptoms such as anemia and bone pain, appear only after 6 months of age and are not usually recognized by the pediatrician. This ends up delaying diagnosis of sickle cell disease, on average, four years. However, the disease can cause fulminant infections in the first year of life. Without early diagnosis and specific medical care, 25% of these children will die before reaching age 5.

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