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Multiple Choice

Basophilic stippling on a peripheral smear can be seen in lead intoxication and which hereditary disorder?

Basophilic stippling reflects scattered ribosomal RNA remnants inside red cells. It’s most famously seen in lead poisoning because lead blocks enzymes that normally degrade rRNA during red cell maturation. But the finding isn’t exclusive to lead; it also appears in disorders of heme synthesis or abnormal erythropoiesis. Among hereditary conditions, sideroblastic anemia is the classic association with basophilic stippling. In sideroblastic anemia, defects in heme synthesis and iron utilization disrupt erythroid maturation, leading to RNA remnants in circulating red cells and the characteristic stippled smear. Alpha- and beta-thalassemias mainly cause microcytosis and target cells, and basophilic stippling isn’t a defining feature there. So, the hereditary disorder most commonly linked to basophilic stippling in this context is sideroblastic anemia.

Basophilic stippling reflects scattered ribosomal RNA remnants inside red cells. It’s most famously seen in lead poisoning because lead blocks enzymes that normally degrade rRNA during red cell maturation. But the finding isn’t exclusive to lead; it also appears in disorders of heme synthesis or abnormal erythropoiesis.

Among hereditary conditions, sideroblastic anemia is the classic association with basophilic stippling. In sideroblastic anemia, defects in heme synthesis and iron utilization disrupt erythroid maturation, leading to RNA remnants in circulating red cells and the characteristic stippled smear. Alpha- and beta-thalassemias mainly cause microcytosis and target cells, and basophilic stippling isn’t a defining feature there.

So, the hereditary disorder most commonly linked to basophilic stippling in this context is sideroblastic anemia.