Features that support a diagnosis of DBA include the presence of congenital abnormalities, macrocytosis, elevated fetal hemoglobin, and elevated adenosine deaminase levels in red blood cells.
2.
While at birth, blood count is usually normal, macrocytosis / megaloblastic anemia, defined as unusually large red blood cells, is the first detected abnormality, often within the first decade of life ( median age of onset is 7 years ).
3.
Gastrointestinal diseases that may cause macrocytosis include celiac disease ( severe sensitivity to gluten from wheat and other grains that causes intestinal damage ) and Crohn s disease ( inflammatory bowel disease that can affect any part of the gastrointestinal tract ) . ( Source healthgrades . com)
4.
In addition, some evidence on macrocytosis in hypoxic stress ( when Epo can increase 1000-fold ) suggests that mitosis is actually " skipped " in later erythroid stages, when EpoR expression is low / absent, in order to provide emergency reserve of red blood cells as soon as possible.
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