Skip to content
How It Works
Explore
Resources Ask a Question
Who It's For
Patients Caregivers Providers
Log In Ask a Question
PubMed This is a summary of 84 peer-reviewed journal articles Updated
Hematology

Hereditary Spherocytosis (HS) Patient Resource Guide

At a Glance

Hereditary Spherocytosis (HS) is a genetic red blood cell disorder. This comprehensive guide helps patients and caregivers navigate their diagnosis, understand lab results, explore treatment and surgical options, and manage long-term care effectively.

Welcome to the Hereditary Spherocytosis Patient Resource Guide. This guide is designed to help you and your family understand HS, from the underlying biology to daily management. Whether you are a parent of a newly diagnosed child or an adult navigating your own care, these pages provide evidence-based information to empower you in conversations with your medical team [1].

Please use the following links to navigate through the guide:

01

Understanding Hereditary Spherocytosis: The Biology of Red Blood Cells

Learn about Hereditary Spherocytosis (HS), a genetic blood disorder. Understand how gene mutations cause spherocytes, the role of the spleen, and inheritance.

02

Symptoms, Severity, and Complications of Hereditary Spherocytosis

Learn about the symptoms, severity levels, and complications of Hereditary Spherocytosis (HS), including the clinical triad, aplastic crisis, and gallstones.

03

Diagnostic Tests and Lab Reports: Understanding Your Results

Learn how hereditary spherocytosis is diagnosed. Understand your HS lab report, including CBC results, high MCHC, blood smears, and the EMA-binding test.

04

Managing Hereditary Spherocytosis: Treatment and Surgical Options

Discover treatment options for hereditary spherocytosis (HS). Learn about folic acid supplements, blood transfusions, splenectomy surgery, and gallstone care.

05

Living Well with Hereditary Spherocytosis: Long-Term Care

Learn how to manage Hereditary Spherocytosis (HS) long-term. Understand post-splenectomy infection prevention, the fever protocol, and daily life management.

Common questions in this guide

What is Hereditary Spherocytosis (HS)?
Hereditary spherocytosis is a genetic disorder that affects the structure of red blood cells. It causes the cells to be sphere-shaped rather than their normal flat, disc shape, making them more fragile and prone to breaking down prematurely.
Which specialists treat Hereditary Spherocytosis?
Patients with hereditary spherocytosis are typically treated by a hematologist, which is a doctor who specializes in blood disorders. For newly diagnosed children, a pediatric hematologist will lead the care team.
Can Hereditary Spherocytosis be cured?
While there is no way to cure the underlying genetic mutation, hereditary spherocytosis can be effectively managed. Treatments and specific surgical options are used to minimize symptoms, prevent complications, and improve quality of life.
How is Hereditary Spherocytosis managed long-term?
Managing the condition involves working closely with your hematologist to monitor blood counts and symptoms. A long-term care plan will depend on the severity of the condition and may include regular lab work, specialist visits, and lifestyle adjustments.

Questions to Ask Your Doctor

Curated prompts to bring to your next appointment.

  1. 1.How does my or my child's specific diagnosis compare to the typical course of Hereditary Spherocytosis?
  2. 2.Which specialists should I prioritize adding to my care team right now?
  3. 3.Are there any current clinical trials or new research developments relevant to my family's specific genetic mutation?

Questions For You

Tap a prompt to share your answer — we'll use it plus this page's context to start a tailored conversation.

References

References (1)
  1. 1

    Identification of a Novel Mutation of β-Spectrin in Hereditary Spherocytosis Using Whole Exome Sequencing.

    Bogusławska DM, Skulski M, Machnicka B, et al.

    International journal of molecular sciences 2021; (22(20)) doi:10.3390/ijms222011007.

    PMID: 34681667

This guide provides educational information about Hereditary Spherocytosis to help you and your family. Always consult your hematologist or pediatrician for medical advice specific to your or your child's condition.

Get notified when new evidence is published on Hereditary spherocytosis.

We monitor PubMed for new peer-reviewed studies on this topic and email a short summary when something meaningful changes.