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Sickle Cell Disease 镰状细胞贫血病

Sickle Cell disease (SCD) is an autosomal recessive disorder and is characterized by a structural abnormality in the beta-globin chain of the hemoglobin molecule within the red blood cells (RBC)   (Ndefo, U., et all., 2008).  Autosomal  refers to the fact that the beta-globin gene effects males and females equally.  Recessive  means that in order for the mutated gene to be expressed as a disease, both copies of the beta-globin gene must be mutant (NSW Health, 2015).

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