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ABO-associated hemolysis
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Elevated adenosine deaminase levels in red blood cells
Maternal blood loss
Rh incompatibility
Water soluble vitamin deficiency
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This patient is presenting with anemia and a triphalangeal thumb which is highly suspicious for Diamond Blackfan anemia (associated with an elevated adenosine deaminase level in red blood cells). Diamond Blackfan anemia presents with a macrocytic anemia, triphalangeal thumbs, a webbed neck, and an absence of a reticulocytosis (which typically occurs as compensation for anemia). Red blood cells are found to have an elevated adenosine deaminase level in this condition. Figure A demonstrates a triphalangeal thumb which is commonly seen in Diamond Blackfan anemia. Note how the thumb looks like another finger. Incorrect Answers: Answer 1: ABO-associated hemolysis occurs secondary to maternal IgG crossing the placenta and destroying fetal red blood cells. Mild hemolysis, jaundice, and a reticulocytosis would be expected. Answer 3: Maternal blood loss could explain this infants anemia; however, it would not explain his triphalangeal thumb. Answer 4: Rh incompatibility would present with more severe anemia and jaundice; however, it would not explain this infant's abnormal triphalangeal thumb. Answer 5: Water-soluble vitamin deficiency describes a folic acid or vitamin B12 deficiency, which would present with a megaloblastic anemia but would not present with a triphalangeal thumb. Bullet Summary: Diamond Blackfan anemia presents with a macrocytic anemia, triphalangeal thumbs, a webbed neck, and an absence of a reticulocytosis.
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