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Tag Archives: Anemia —

A rare case of Diamond Blackfan anemia: identifying the causative mutation using NGS

July 2016—Diamond Blackfan anemia is a rare, inherited bone marrow failure syndrome manifesting as marked red cell aplasia and variable congenital anomalies. We report here a case of Diamond Blackfan anemia, which underscores the role of an integrated diagnostic workflow including hematopathologic evaluation and next-generation sequencing for establishing the diagnosis and potential management of rare, inherited bone marrow failure syndromes.

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Lab studies new steps in urine and anemia screening

August 2015—Despite the demonstrated value of implementing reflex testing algorithms to improve patient care and avert wasteful spending, the road from conceptual understanding to plan-in-action can be rocky. A pathologist at one academic medical center recently talked about his experience with reflex testing algorithms in the areas of urine screening and preoperative anemia screening. His story illustrates the barriers to change as well as the enviable outcomes that could potentially be achieved.

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Anemia: classification challenge and clinical questions

December 2014—Anemia is in the eye of the classifier. While that’s not as elegant as the “beauty-beholder” saying, it’s much more important. To be able to effectively treat and diagnose anemia, “You have to know what is causing the decrease in red cells,” said Sherrie Perkins, MD, PhD, speaking at an AACC workshop this year. There are plenty of definitions to choose from, said Dr. Perkins, of the University of Utah/ARUP Laboratories, Salt Lake City. At the most basic level, she noted, anemia is a pathologic condition marked by a reduced capacity of blood to transport and deliver adequate oxygen to tissues. In short, anemia is a manifestation of disease, not a disease itself.

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