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Deletion of beta hemaglobin gene
9%
28/321
Chronic loss of blood through GI tract
2%
8/321
X-linked mutation of ALA synthetase
7%
24/321
Inflammation due to occult abdominal malignancy
3%
9/321
Inhibition of ALA dehydratase and ferrochelatase
75%
242/321
Select Answer to see Preferred Response
This presentation is consistent with anemia due to lead poisoning in a child who likely moved to an old house with lead paint. Lead causes anemia by inhibition of the enzymes ALA dehydratase and ferrochelatase. Lead poisoning anemia is a microcytic anemia that is caused by inhibition of these two key enzymes in the porphyrin synthesis pathway. This causes accumulation of iron in red blood cell precursors leading to the characteristic increased ferritin and basophilic stippling seen on laboratory tests. Common symptoms reported in patients with lead poisoning include recurrent episodes of abdominal pain, anemia. Encephalopathy may be present with high levels of exposure or chronic exposure in children. Other findings include Burton's lead lines in bone radiographs. Warniment et al. review the evidence for evaluation of lead poisoning in children. They claim that over 300,000 children in the United States have elevated levels and thus physicians should be careful to screen for the disorder in children at risk, such as those who live in old houses or in the inner city. The preferred method for measuring lead levels is venous sampling, but fingerstick can also be used if carefully collected. Chelation therapy should be used for children who have blood levels above 45 micrograms per deciliter. General prevention should consist of educating all parents about the risk of lead poisoning. Ordemann and Austin review data that lead poisoning in childhood not only reduces IQ and can cause childhood intellectual disabilities, but also has some correlation with longer term neurological outcomes such as Alzheimer's and Parkinson's disease. They then review data that molecular experiments show that replacement of zinc with lead in zinc finger proteins may be the mechanism by which lead can cause these long term neurological outcomes. Image A shows basophilic stippling in one red blood cell, which is a characteristic finding in anemia due to lead poisoning. Incorrect Answers: Answer 1: Deletion of the beta hemaglobin gene is the cause of beta thalassemia. Answer 2: Chronic blood loss would lead to decreased ferritin levels. Answer 3: ALA synthetase mutation would cause sideroblastic anemia, which does not present with the associated symptom of abdominal pain. Answer 4: Inflammation would cause anemia of chronic disease, which does not present with basophilic stippling.
3.5
(4)
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