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PubMed This is a summary of 57 peer-reviewed journal articles Updated
Hematology

Hereditary Elliptocytosis Resource Guide

At a Glance

Hereditary Elliptocytosis (HE) is a genetic blood disorder causing red blood cells to be oval-shaped instead of round. It is typically a mild condition that allows for a normal, healthy life. Regular monitoring of red blood cell production and folic acid supplements may be recommended.

Welcome to the Hereditary Elliptocytosis (HE) Resource Guide. If you or your child has recently been diagnosed with this rare blood disorder, you likely have many questions. This guide is designed to help you understand the condition, navigate your medical care, and advocate for your health.

Hereditary Elliptocytosis is a genetic condition that causes red blood cells to be shaped like ovals or cigars instead of flexible, round disks. For most people, this is a mild condition that does not interfere with a long, healthy life. However, the severity can vary widely.

Use the links below to explore different aspects of HE:

01

What is Hereditary Elliptocytosis? First Facts and Orientation

Learn the first facts about Hereditary Elliptocytosis (HE). Understand why red blood cells become oval-shaped, the spectrum of severity, and genetic causes.

02

Symptoms and Common Complications of Hereditary Elliptocytosis

Learn about the symptoms and common complications of hereditary elliptocytosis (HE). Understand newborn jaundice, gallstones, and hemolytic anemia risks.

03

The Biology of HE: Genes and Subtypes

Learn about the biology of Hereditary Elliptocytosis (HE). Understand how SPTA1, SPTB, and EPB41 gene mutations cause cell defects and different HE subtypes.

04

Diagnosis and Understanding Your Test Results

Learn how Hereditary Elliptocytosis (HE) is diagnosed. Understand your peripheral blood smear, ektacytometry, and genetic test results to guide your care.

05

Standard of Care and Treatment Options

Explore treatment options for Hereditary Elliptocytosis (HE) and HPP. Learn about observation, folic acid, blood transfusions, and splenectomy procedures.

06

Living with Hereditary Elliptocytosis: Long-term Monitoring

Learn how to manage and monitor hereditary elliptocytosis (HE) long-term. Understand routine blood tests, gallstone screening, and life after a splenectomy.

Common questions in this guide

What is Hereditary Elliptocytosis?
Hereditary Elliptocytosis is a genetic blood condition where red blood cells are shaped like ovals or cigars rather than flexible, round disks. For most people, it is a mild disorder that does not interfere with a long and healthy life.
Will I need to take supplements for Hereditary Elliptocytosis?
Many patients with HE take a daily folic acid supplement. This helps support your body's ongoing production of new red blood cells. You should discuss with your doctor whether this is necessary for you or your child.
What symptoms or red flags should I watch out for?
While many people have mild or no symptoms, you should watch for signs like unexplained fatigue, yellowing of the skin or eyes (jaundice), or pain under your right ribs. If you notice these symptoms worsening, contact your doctor immediately.
How will my doctor monitor my Hereditary Elliptocytosis?
Your doctor will likely monitor your reticulocyte count, which measures how fast your body is making new red blood cells. You may also undergo genetic testing to see if your gene mutation is monoallelic or biallelic, which helps determine the severity of your condition.

Questions to Ask Your Doctor

Curated prompts to bring to your next appointment.

  1. 1.What is my reticulocyte baseline, and how often should we check it?
  2. 2.Am I (or my child) monoallelic or biallelic for the genetic mutation?
  3. 3.Should I be taking a daily folic acid supplement to support my red blood cell production?
  4. 4.What specific symptoms or 'red flags' should prompt me to go to the emergency room or call you immediately?

Questions For You

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This resource guide provides an overview of Hereditary Elliptocytosis for educational purposes only. Always consult your hematologist or primary care provider for medical advice and symptom monitoring.

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