🧬 Chapter 508 · Hereditary Elliptocytosis, Hereditary Pyropoikilocytosis, and Related Disorders

Nelson Textbook of Pediatrics 22nd Edition | Hereditary elliptocytosis (HE) β€” common, usually asymptomatic, with elliptocytes on smear. Hereditary pyropoikilocytosis (HPP) β€” severe hemolytic anemia, microcytosis (MCV 50-65 fL), poikilocytes, thermal instability (lysis at 46Β°C). Southeast Asian ovalocytosis (SAO) β€” band 3 deletion, rigid RBCs, protection against malaria. Spectrin mutations (Ξ±/Ξ²) impair horizontal membrane interactions.

🌐 paeds.online β€” Pakistan's Pediatric Platform

πŸ“‹ 30 Clinical Scenarios β€” Hereditary Elliptocytosis & Pyropoikilocytosis

πŸ“‡ High‑Yield Review Cards (HE, HPP, SAO)

🩺 Clinical Recognition: HE vs HPP vs SAO

Select a presentation for diagnostic clues and management.

πŸ“‹ Stepwise Management of HE and HPP

πŸ”‘ Key Distinctions β€” Nelson Ch 508
β€’ Typical HE: Asymptomatic, elliptocytes on smear, no anemia. Autosomal dominant.
β€’ Hemolytic HE: Chronic hemolysis, poikilocytes, splenomegaly. May respond to splenectomy.
β€’ HPP: Severe microcytic hemolytic anemia (MCV 50-65), bizarre poikilocytes, fragments, thermal lability (46Β°C). Recessive inheritance (spectrin mutations).
β€’ SAO (Southeast Asian ovalocytosis): Band 3 deletion, ovalocytes with transverse ridge, rigid RBCs, protection against malaria, no hemolysis after infancy.

    ⚑ Reflex Prompts β€” Clinical Decisions in HE/HPP

    πŸ“– Summary: Hereditary Elliptocytosis & Pyropoikilocytosis β€” Nelson Ch 508