Answer to Question 1
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Neurofibromatosis is characterized by caf au lait spots and benign skin tumors. Mongolian spots are benign bluish-purplish spots found on the back of newborns, usually of African American descent. Newborns with Tay-Sachs disease present with vision loss, and children with fragile X syndrome have a large head and chin and a long face.
Answer to Question 2
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There are exceptions to the general guidelines of ABO transfusion compatibility. The most common additional factor is the aspect of the D antigen (D factor), which is more commonly known as the Rh factor. The D antigen is particularly pertinent in some hemolytic diseases, such as erythroblastosis fetalis in the newborn, because of Rh sensitization. Polycythemia means too many blood cells, particularly red blood cells (RBCs). Anemia reflects an abnormality in the number, structure, or function of RBCs. Sickle cell disease is a genetic disease in which the person's RBCs become crescent or sickle shaped owing to a mutation in the hemoglobin gene.
