About this study
This study is for patients who have a blood disease that is not cancerous and for related family members. Non-cancerous blood diseases, also called hematological disorders, include a wide range of conditions. The most well-known examples are sickle cell anemia and bone marrow failure syndromes. Bone marrow failure syndromes may include:
- Congenital neutropenia
- Dyskeratosis congenital (DKC), also known as Zinsser-Cole-Engleman syndrome
- Diamond-Blackfan anemia (DBA)
- Fanconi anemia
- Congenital thrombocytopenia
Researchers know that genes play a role in transmitting blood diseases in families, but they need to learn more about this process. Learning how genes cause and influence blood diseases can help them better predict and treat these diseases. They also want to study families to learn more about how blood diseases are inherited.
Genetic and genomic research involves molecules such as DNA. DNA is the “instruction book” for the cells that make up our bodies. Our genes are made up of DNA, and a genome is a complete set of DNA. Each person’s DNA is unique, and changes in DNA can lead to developing or having a blood disorder. By studying the genomes in individuals with blood diseases and their family members, St. Jude researchers hope to learn about how diseases develop and respond to treatment. Eventually, this research may lead to new and better ways to diagnose and treat these diseases.
Study protocol
Participants will provide samples of blood and bone marrow. The blood and bone marrow samples of study participants may not be studied right away. Researchers will store the samples and evaluate them at the best time.
Eligibility overview
- Male or female of any age receiving therapy or a consultation for a non-malignant blood disorder, and
- Biological relatives (with or without a non-malignant blood disorder) who agree to undergo genetic testing