Disease at a Glance

Summary
Nonspherocytic hemolytic anemia due to hexokinase deficiency (NSHA due to HK1 deficiency) is a very rare condition mainly characterized by severe, chronic hemolysis, beginning in infancy. Approximately 20 cases of this condition have been described to date. Signs and symptoms of hexokinase deficiency are very similar to those of pyruvate kinase deficiency but anemia is generally more severe. Some affected individuals reportedly have had various abnormalities in addition to NSHA including multiple malformations, panmyelopathy, and latent diabetes. It can be caused by genetic changes in the HK1 gene and is inherited in an autosomal recessive manner.
Estimated Number of People with this Disease
In the U.S. there may be between

1 to 300

What Information Does GARD Have For This Disease?

Many rare diseases have limited information. Currently GARD is able to provide the following information for this disease:

*Data may be currently unavailable to GARD at this time.
When do symptoms of this disease begin?
This section is currently in development. 

Symptoms

This section is currently in development. We recommend speaking with a doctor to learn more about this disease. 

Causes

Genetic Disease

Nonspherocytic hemolytic anemia due to hexokinase deficiency is a genetic disease, which means that it is caused by one or more genes not working correctly.

The following gene(s) are known to be associated with this disease: HK1

Questions:

Inheritance

All individuals inherit two copies of most genes. The number of copies of a gene that need to have a disease-causing variant affects the way a disease is inherited. This disease is inherited in the following pattern(s):

Questions:

Next Steps

Talking with the Medical Team

Good communication between the patient, family, and medical team can lead to an accurate diagnosis. In addition, health care decisions can be made together which improves the patient’s well-being and quality of life.

Describing Symptoms

Describe details about the symptoms. Because there may be many different causes for a single symptom, it is best not to make a conclusion about the diagnosis. The detailed descriptions help the medical provider determine the correct diagnosis.

To help describe a symptom:

  • Use a smartphone or a notebook to record each symptom before the appointment
  • Describe each symptom by answering the following questions:
    • When did the symptom start?
    • How often does it happen?
    • Does anything make it better or worse?
  • Tell the medical team whether any symptoms affect daily activities

Preparing for the First Visit

Working with a medical team to find a diagnosis can be a long process that will require more than one appointment. Make better health decisions by being prepared for the first visit with each member of the medical team.

    Make informed decisions about health care: 
    • Prepare a list of questions and concerns before the appointment
    • List the most important questions first, not all questions may be answered in the first visit
    • Ask questions about symptoms, possible diagnoses, tests, and treatment options
    For future appointments:
    • Discuss what was not addressed at the last visit
    • Discuss changes in the quality of life for the patient, family, and caregivers
    • Discuss health goals and other issues in the patient’s and family’s life that may affect the health care decisions
    Take notes during the appointments to help remember what was discussed.

    Last Updated: Nov. 8, 2021