Hereditary Elliptocytosis 🩸

Related Subjects: |Iron deficiency Anaemia |Haemolytic anaemia |Macrocytic anaemia |Megaloblastic anaemia |Microcytic anaemia |Myelodysplasia |Myelofibrosis |Hereditary Spherocytosis |Hereditary Elliptocytosis |Haemophilia A |Haemophilia B |Haemolytic anaemia |Heme |Globins |Red blood cells |White blood cells |Lymphocytes |Platelets |Cryoprecipitate |Fresh Frozen Plasma |Blood Cell Maturation |Blood film interpretation |Reticulocytes

A genetic red cell membrane disorder causing elliptically shaped RBCs → variable haemolysis.

📖 About

• HE = inherited RBC membrane disorder with elliptocytes (oval-shaped cells) 🔴.
• Shortened RBC lifespan → chronic haemolysis and sometimes anaemia.
• May confer partial protection against malaria 🦟, similar to sickle cell trait and thalassaemia.

🧬 Aetiology

• Autosomal dominant inheritance (rare recessive forms).
• Prevalence >1 in 10,000, but many cases undiagnosed (often mild/asymptomatic).
• Mutations in RBC cytoskeletal proteins (α-spectrin, protein 4.1, glycophorin C) 🧪.
• Deformed RBCs removed prematurely by the spleen ➡️ haemolysis.

⚡ Clinical Features

• Generally milder than hereditary spherocytosis (HS) ✅.
• Wide variability: asymptomatic → severe haemolysis.
• Haemolytic crises may follow infection or physiological stress 😷.
• Complications: chronic haemolysis, splenomegaly, pigment gallstones 🪨, megaloblastic crises (folate deficiency).
• Aplastic crisis possible after Parvovirus B19 infection 🦠.
• Other: jaundice 🟡, leg ulcers 🦵.

🔬 Investigations

• Blood film: Elliptocytes/ovalocytes 🔴.
• ↑ LDH, ↑ reticulocyte count, normal DAT (excludes immune haemolysis).
• Megaloblastic anaemia if folate deficient 🌿.
• Increased red cell fragility in hypotonic solution tests.
• Flow cytometry may confirm diagnosis 🔬.

🩺 Management

• Folate supplementation: 5 mg orally once weekly to prevent deficiency 🌿.
• Splenectomy: for severe cases (usually >age 6), reduces haemolysis. ➡️ Improves RBC survival but increases infection risk ⚠️.
• Post-splenectomy: lifelong infection prevention is essential (see below).
• Transient thrombocytosis may occur post-splenectomy → sometimes requires aspirin therapy 💊.
• Mild cases: often no treatment required.

💉 Prevention of Infection Post-Splenectomy

• Vaccination against Streptococcus pneumoniae 🦠.
• Vaccination against Haemophilus influenzae type B (Hib).
• Vaccination against meningococcal strains (A, C, W, Y; plus B if indicated).
• Lifelong Penicillin V prophylaxis (500 mg bd) often recommended in UK practice 💊.

⚠️ Complications

• Infection risk after splenectomy (esp. pneumococcus, Hib, meningococcus) 🔴.
• Pigment gallstones from chronic haemolysis 🪨.
• Secondary arthritis from recurrent crises (rare).

Cases - Hereditary Elliptocytosis

• Case 1 - Mild, Asymptomatic Form: A 22-year-old woman is noted to have incidental elliptocytes on a blood film taken during routine health screening. She feels well, Hb 12.4 g/dL, reticulocyte count slightly raised. No splenomegaly. Her father also has a “blood condition” but never needed treatment. Diagnosis: Mild hereditary elliptocytosis (often asymptomatic).
• Case 2 - Severe Anaemia with Neonatal Jaundice: A 6-month-old boy is admitted with persistent jaundice, pallor, and poor feeding. Bloods show Hb 7.5 g/dL, high reticulocytes, unconjugated hyperbilirubinaemia. Blood film: numerous elliptocytes with some poikilocytosis. Splenomegaly present. Diagnosis: Severe hereditary elliptocytosis with haemolytic anaemia.

Teaching Commentary 🔬

Hereditary Elliptocytosis is an autosomal dominant red cell membrane disorder due to defects in spectrin or related proteins. The red cells become elliptical (oval), with reduced deformability and variable haemolysis. Most cases are asymptomatic and discovered incidentally, but severe variants can present in infancy with jaundice, anaemia, and splenomegaly. Blood film is diagnostic, showing a high proportion of elliptocytes. Treatment is usually not required, though splenectomy may be considered in severe, transfusion-dependent cases. Like hereditary spherocytosis, gallstones and haemolytic crises can occur.