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ZRSR2 mutation in a child with refractory macrocytic anemia and Down Syndrome
Pediatric Hematology & Oncology, 2019Here we report a case of refractory macrocytic anemia with a spliceosomal point mutation involving the ZRSR2 gene in a child with Down syndrome (DS). Such mutations have been shown to cause refractory macrocytic anemia and myelodysplastic syndrome (MDS ...
M. Srinath +8 more
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Postgraduate Medicine, 1977
Macrocytic anemias are not uncommon in clinical practice, and precise etiologic diagnosis is mandatory for proper management. Measurement of serum levels of vitamin B12 and folic acid may obviate the need for extensive diagnostic studies.
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Macrocytic anemias are not uncommon in clinical practice, and precise etiologic diagnosis is mandatory for proper management. Measurement of serum levels of vitamin B12 and folic acid may obviate the need for extensive diagnostic studies.
openaire +2 more sources
FP essentials, 2023
Macrocytic anemia is divided into megaloblastic and nonmegaloblastic causes, with the former being more common. Megaloblastic anemia results from impaired DNA synthesis, leading to release of megaloblasts, which are large nucleated red blood cell precursors with chromatin that is not condensed.
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Macrocytic anemia is divided into megaloblastic and nonmegaloblastic causes, with the former being more common. Megaloblastic anemia results from impaired DNA synthesis, leading to release of megaloblasts, which are large nucleated red blood cell precursors with chromatin that is not condensed.
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Evaluation of Macrocytic Anemias
Seminars in Hematology, 2015Macrocytic anemia, defined as a mean cell volume (MCV) ≥100 fL in adults, has a narrow differential diagnosis that requires evaluation of the peripheral blood smear as well as additional laboratory testing taken in conjunction with clinical information that includes patient history and physical examination findings.
Ralph, Green, Denis M, Dwyre
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TREATMENT OF MACROCYTIC ANEMIAS
Archives of Internal Medicine, 1955ANEMIAS characterized by large erythrocytes (MCV > 95) are usually caused by lack of one of the erythrocyte maturation factors, vitamin B12or folinic acid. Under these circumstances the young erythrocytes in the bone marrow are megaloblastic and maturation of myeloid elements and megakaryocytes is bizarre.
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Laboratory Medicine, 1990
Megaloblastic anemias result from processes that disrupt DNA synthesis. The condition is usually acquired, with medications, cobalamin, or folate deficiency being common precipitating factors. Many patients with cobalamin or folate deficiency will present with hematologic abnormalities, such as anemia or pancytopenia, along with macroovalocytes and ...
Steven Scates, John Glaspy
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Megaloblastic anemias result from processes that disrupt DNA synthesis. The condition is usually acquired, with medications, cobalamin, or folate deficiency being common precipitating factors. Many patients with cobalamin or folate deficiency will present with hematologic abnormalities, such as anemia or pancytopenia, along with macroovalocytes and ...
Steven Scates, John Glaspy
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Normocytic and macrocytic anemias
Postgraduate Medicine, 1991Differential diagnosis of normocytic and macrocytic anemias is guided by the patient history, physical examination results, reticulocyte count, and specific red blood cell abnormalities identified on the peripheral smear. In some cases this information is sufficient for diagnosis.
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Clinching the diagnosis: macrocytic anemia
Pathology, 1988Macrocytosis is a common laboratory finding. Whether this change requires further attention is dictated by clinical circumstances and concomitant cytopenias or aberrant erythrocyte and leukocyte morphology. The utility of these changes for dictating further investigation and the appropriate "modus operandi" in diagnostic strategies for the adult and ...
M B, Van der Weyden, L, Campbell
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