The purpose of this article is to set forth our approach to diagnosing and managing the thalassemias, including -thalassemia intermedia and -thalassemia major. The article begins by briefly describing recent advances in our understanding of the pathophysiology of thalassemia. In the discussion on diagnosing the condition, we cover the development of improved diagnostic tools, including the use ...

Myelofibrosis (MF), formerly known as idiopathic MF, MF with myeloid metaplasia, or agnogeneic myeloid metaplasia, is one of the classical BCR-ABL1-negative chronic myeloproliferative neoplasms (MPNs), a group also including essential thrombocythemia (ET) and polycythemia vera (PV). Either appearing de novo (primary MF [PMF]) or following a previous ET or PV (post-ET or post-PVMF), the disease ...

It is currently assumed that myelofibrosis (MF) originates from acquired mutations that target the hematopoietic stem cell and induce dysregulation of kinase signaling, clonal myeloproliferation, and abnormal cytokine expression. These pathogenetic processes are interdependent and also individually contributory to disease phenotype–bone marrow stromal changes, extramedullary hematopoiesis, inef...

Amyloidosis is an uncommon disorder in which proteins change conformation, aggregate, and form fibrils that infiltrate tissues, leading to organ failure and death. The most frequent types are light-chain (AL) derived from monoclonal B-cell disorders producing amyloidogenic immunoglobulin light chains, and the hereditary and “senile systemic” (ATTR) variants from mutant and wild-type transthyret...

Hemochromatosis is a common genetic disorder in which iron may progressively accumulate in the liver, heart, and other organs. The primary goal of therapy is iron depletion to normalize body iron stores and to prevent or decrease organ dysfunction. The primary therapy to normalize iron stores is phlebotomy. In this opinion article, we discuss the indications for and monitoring of phlebotomy the...