Hematology

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The Challenges of Testing For and Diagnosing Porphyrias

The Challenges of Testing For and Diagnosing Porphyrias [Communiqué]The porphyrias are a group of inborn errors of metabolism caused by enzymatic defects in the heme biosynthetic pathway. Depending upon the specific type of porphyria suspected, certain tests are more informative than other assays. Ordering a battery of tests does not enhance the quality of patient care. Rather, a stepwise diagnostic approach is the most effective means of ruling in or out a specific porphyria.

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Predicting Time to Transformation in Follicular Lymphoma

Predicting Time to Transformation in Follicular LymphomaA recent study in Clinical Cancer Research, completed by Mayo Clinic researchers, examined tissue specimens at diagnosis from patients with follicular lymphoma that later transformed to define cell subtypes associated with transformation.

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ASXL1 and SETBP1 Mutations and Chronic Myelomonocytic Leukemia

ASXL1 and SETBP1 Mutations and Chronic Myelomonocytic LeukemiaMayo Clinic researchers, first author Ayalew Tefferi, M.D., in collaboration with the French consortium for CMML, conducted a study published in Leukemia to clarify the prognostic relevance of ASXL1 and SETBP1 mutations, among others, in World Health Organization-defined CMML and its added value to the Mayo prognostic model.

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