Hereditary Spherocytosis
Conditions
Keywords
HS, congenital hemolytic anemia, splenectomy, quality of life
Brief summary
The purpose of this study is to 1. better characterize the short term and long term natural history of hereditary spherocytosis (HS) including diagnosis, complications, and indications for and response to splenectomy 2. evaluate and describe the health-related quality of life in children with HS.
Detailed description
Patients with a new or established diagnosis of HS seen at Children's Medical Center will be asked to enroll in the study. Previous and current medical records will be reviewed to systematically catalogue their history of HS, including diagnosis, complications, hospitalizations, medications and laboratory data. Health-related quality of life questionnaires will be given to the patients and their parents at enrollment and periodically during the follow-up. Those who agree will have up to three small samples of blood collected and frozen for future laboratory studies of complications associated with HS and/or splenectomy. We anticipate enrolling approximately 200 children and young adults with HS in this study and following them until adulthood (age 18-21 years).
Interventions
None listed
Sponsors
University of Texas Southwestern Medical Center
Study design
Observational model
COHORT
Time perspective
PROSPECTIVE
Eligibility
Sex/Gender
ALL
Age
No minimum to 21 Years
Healthy volunteers
No
Inclusion criteria
* Diagnosis of HS with or without prior splenectomy * Age 0 - 21 years * Spanish-speaking subjects are eligible to participate
Exclusion criteria
* Unable to provide contact information for follow-up
Design outcomes
Primary
| Measure | Time frame | Description |
|---|---|---|
| Health related quality of life | Approximately at 5 years | PedsQL measurement |
Secondary
| Measure | Time frame | Description |
|---|---|---|
| Primary indications for splenectomy | Approximately at 5 years | Primary indication for splenectomy determined at time of splenectomy, if performed. |
| Complications of HS | Approximately at 5 years and at 10 years | — |
| Complications of splenectomy | Approximately at 5 years | — |
| Diagnosis of HS | At enrollment | — |
Outcome results
None listed