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  • Diagnosis of thalassemia (adults and children) - UpToDate
    Individuals with thalassemia have variable degrees of anemia and extramedullary hematopoiesis, which in turn can cause bone changes, impaired growth, and iron overload This topic review discusses the clinical manifestations and diagnosis of alpha and beta thalassemia, the two most common forms
  • Management of thalassemia - UpToDate
    Management of the thalassemia syndromes can be challenging due to the numerous potential disease complications and the lack of available therapies other than transfusion and hematopoietic cell transplantation, both of which have associated morbidities and costs
  • Hemolysis lab findings - UpToDate
    AKI: acute kidney injury; DIC: disseminated intravascular coagulation; HbA1C: glycosylated (glycated) hemoglobin; LDH: lactate dehydrogenase; RBC: red blood cell * The presence and severity of anemia depend on the degree of hemolysis and capacity of the bone marrow to compensate by increasing erythropoiesis ¶ Intravascular hemolysis can be a medical emergency with free hemoglobin in the
  • Pathophysiology of thalassemia - UpToDate
    INTRODUCTION Alpha and beta thalassemia are inherited hemoglobinopathies in which impaired production of one type of globin chain (alpha chains in alpha thalassemia; beta chains in beta thalassemia) causes an imbalance in the ratio between alpha and beta (or beta-like) chains, which is normally tightly controlled Balanced synthesis is important because the intact hemoglobin A (Hb A) and
  • Methods for hemoglobin analysis and hemoglobinopathy testing
    Methods of hemoglobin analysis for hemoglobinopathy testingPoint-of-care diagnostic tests for sickle cell diseaseTypical hemoglobin patterns in common beta-hemoglobinopathiesClassical thalassemia syndromes (genotypes and laboratory findings)
  • Gene test interpretation: HBA1 and HBA2 (alpha globin genes . . . - UpToDate
    INTRODUCTION This monograph discusses implications of a genetic test result for alpha globin genes (HBA1 and HBA2) Pathogenic variants (often deletions) in these genes cause alpha thalassemia Alpha globin gene testing cannot identify beta thalassemia or other conditions affecting beta globin such as sickle cell disease Indications for testing and clinical care of the tested individual are
  • Microcytosis Microcytic anemia - UpToDate
    This webpage provides comprehensive information on microcytosis and microcytic anemia, including causes, diagnosis, and treatment options
  • Approach to the child with anemia - UpToDate
    The red cell distribution width (RDW) can be helpful in differentiating iron deficiency from thalassemia Anisocytosis (high RDW) is typical of iron deficiency, whereas the RDW is usually within reference range in patients with thalassemia (though elevated RDW can occur)
  • Diagnosis of sickle cell disorders - UpToDate
    Sickle cell disease (SCD) is an inherited group of disorders characterized by the presence of hemoglobin S (Hb S), either from homozygosity for the sickle mutation (Hb SS) or compound heterozygosity with another beta globin variant (eg, sickle-beta thalassemia, Hb SC disease) The hallmarks of SCD are vaso-occlusive phenomena and hemolytic anemia
  • Diagnostic approach to anemia in adults - UpToDate
    Diagnostic approach to anemia in adults, exploring causes, symptoms, and management strategies for effective treatment





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