Thalassemia Intermedia Differential Diagnoses
- Author: Hassan M Yaish, MD; Chief Editor: Robert J Arceci, MD, PhD more...
In prenatal diagnosis of thalassemia intermedia, DNA probes of known genotypes are usually used. Because this condition varies significantly in severity (despite the misleading name), a milder form of disease may be anticipated in a baby who turns out to be affected by a more severe form of the disease. For this reason, parents should be informed in advance that testing may help rule out the possibility of severe disease (such as when a heterozygous condition is diagnosed) or may confirm severe disease when a homozygosity or heterozygosity for 2 severe mutations is confirmed. However, intermediate cases may be misleading, and the predictability of severity has been less accurate until recently, when a new study showed 83.2% accuracy in predicting disease severity when the patient is tested for the presence or absence of 5 predetermined genetic modifiers of severity.
Other problems that should be considered during the evaluation of a patient with suspected thalassemia intermedia include the following:
Hemolytic anemias (autoimmune, metabolic)
Beta thalassemia major
Thrombocytopenia, associated with splenomegaly in various clinical entities
Anemia, hypochromic and microcytic
The severe anemia, if associated with thrombocytopenia, hypersplenism, and the immature leukocytes often observed on peripheral blood films, raises the question of acute leukemia or metastatic lymphoma. Milder cases, on the other hand, must be differentiated from thalassemia trait or even anemias related to iron deficiency or chronic inflammation. Unlike the intermedia forms, β thalassemia trait rarely produces an Hb level less than 9 g/dL, nor is it associated with enlarged spleen, the presence of nucleated RBCs, or significant anisocytosis and poikilocytosis on peripheral blood smear examination. Iron deficiency anemia is characterized by a normal Hb electrophoresis pattern and abnormal iron study results.
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