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Study of the Role of Genetic Modifiers in Hemoglobinopathies

Description

This study will investigate the role of genetic modifiers in hemoglobinopathies through a large-scale, multi-ethnic genome-wide association study (GWAS).

Conditions

Sickle Cell DiseaseThalassemia, BetaThalassemia AlphaHemoglobinopathies
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Related Conditions:

Sickle Cell DiseaseThalassemia, BetaThalassemia AlphaHemoglobinopathies

Study Overview

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Study Details

Study overview

This study will investigate the role of genetic modifiers in hemoglobinopathies through a large-scale, multi-ethnic genome-wide association study (GWAS).

Study of the Role of Genetic Modifiers in Hemoglobinopathies

Study of the Role of Genetic Modifiers in Hemoglobinopathies

Condition
Sickle Cell Disease
Intervention / Treatment

-

Contacts and Locations

Boston

Boston Children's Hospital, Boston, Massachusetts, United States, 02115

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

For general information about clinical research, read Learn About Studies.

Eligibility Criteria

  • * Clinical diagnosis of an inherited hemoglobinopathy, including sickle cell disease (SCD), β-thalassemia, and α-thalassemia; all genotypes will be considered.
  • * Age ≥ 2 years old at the time of the collection of the phenotypic data.
  • * There will be no limits on study participants in terms of gender, ethnicity, morbidities.
  • * Patients treated with stem cell transplantation or genetic therapy.
  • * Age \< 2 years old at the time of the collection of the phenotypic data.
  • * Patient or legal representative for minors unwilling or unable to give consent.

Ages Eligible for Study

2 Years to

Sexes Eligible for Study

ALL

Accepts Healthy Volunteers

No

Collaborators and Investigators

Cyprus Institute of Neurology and Genetics,

Petros Kountouris, PhD, PRINCIPAL_INVESTIGATOR, Cyprus Institute of Neurology and Genetics

Study Record Dates

2027-09-30