Discrepancies between genotype and phenotype in hematology: an important frontier.

  title={Discrepancies between genotype and phenotype in hematology: an important frontier.},
  author={Ernest Beutler},
  volume={98 9},
An African American male infant with sickle cell disease has a devastating stroke; an African American soldier is surprised when he is informed that he has sickle cell disease. They are both homozygous for the same mutation. An Ashkenazi Jewish woman with Gaucher disease has a huge spleen and severe thrombocytopenia; her older brother, homozygous for the same 1226G glucocerebrosidase mutation, is found on routine examination to have a barely palpable spleen tip. The fact that clinical… CONTINUE READING


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