Request for Information (RFI): Data Collection in Hemoglobinopathies: Identification of Datasets and Key Elements

Notice Number: NOT-HL-09-111

Key Dates
Release Date: November 28, 2008
Response Date:  January 16, 2009

Issued by
National Heart, Lung, and Blood Institute (NHLBI) (

This Request for Information (RFI) seeks to identify datasets which contain information about hemoglobinopathies (α and β thalassemias, and hemoglobins S, C and E), and to identify tissue repositories associated with clinical data. Data elements may include, but are not limited to complications, co-morbidities, therapies administered, health care and social service utilization and costs, and health-related outcomes to enable a better characterization of these patient populations. Tissue repositories of interest are sources of DNA useful for genotyping. 

The National Heart, Lung, and Blood Institute (NHLBI) a component of the National Institutes of Health (NIH) recently completed a Strategic Plan that will guide the NHLBI’s research investments in the area of heart, lung, and blood diseases.  The NHLBI is examining how it will address the goals defined in the Strategic Plan across its broad research portfolio.

The mission of the NIH is to conduct and support research and research training.  The NHLBI is uniquely positioned to catalyze changes that transform new scientific knowledge into measures that can improve the public health, and to communicate advances in knowledge to the individuals and institutions directly engaged in disease prevention and healthcare delivery.  The prevalence of persons with hemoglobinopathies is incompletely known; their health care access and needs, and the needs for targeted research to enhance quality of life are not well defined. Over the past decade, several effective therapies (e.g., hydroxyurea, chronic transfusion, and hematopoietic stem cell transplantation) have been developed that mitigate various complications of sickle cell disease and thalassemia.  Implementation of these therapies and their impact on prevention and management of complications have not been systematically assessed.

As NHLBI examines the goals of its Strategic Plan in hemoglobinopathies, the absence of standardized descriptions of phenotypes and complications has limited design of multiple studies. The NHLBI seeks datasets which it can use to support and conduct studies in several areas. Two areas of major importance are the establishment of surveillance systems and patient registries, and genomic studies.

NHLBI and the Centers for Disease Control and Prevention are developing a surveillance system for hemoglobinopathies, and plan to incorporate registries for groups of affected persons. Clear definition of phenotypes and disease complications are essential to ensure coherence and integrity of data.

Over the past five years, genomic information has become technically standardized and affordable. NHLBI has supported multiple research efforts to identify genetic and environmental modifiers of conditions with substantial genetic causality. The NHLBI is particularly interested in clinical datasets with associated sources of DNA to standardize phenotypic descriptions and ontologies to facilitate the conduct of studies which will associate genotypic data, proteomic, glycomic, metabolomic, epigenetic and environmental technologies with indicators of disease severity, risk, and manifestations. Common descriptors are essential to elucidate the biology behind genetic and environmental influences, and to identify targets for future studies and potential therapies. NHLBI intends to create this resource for the entire research community; data sharing will be required for participation in all future studies. 

Information Requested:
The NHLBI seeks to identify research, administrative and other datasets with information on individuals with hemoglobinopathies from state and local health departments, health care organizations, health insurance plans, private and public health care agencies, academic health centers, and consumer advocacy organizations.  The purpose of this request is to identify potential sources of information. It is not a request to share actual data at this time. We are not requesting information about NHLBI-funded clinical trials databases unless individual investigators or sites have collected follow-up data not funded by NIH.

Please respond by January 16, 2009.
Send a fax, or email to:
Fax: (301) 480-1046

On your response please provide the following (and include the Notice number HL-09-111 in the subject line): 

 This RFI is for information and planning purposes only and should not be construed as a solicitation or as an obligation on the part of the NHLBI. The NHLBI does not intend to award a grant or contract to pay for the preparation of any information submitted or for the NHLBI’s use of such information.  Acknowledgment of receipt of responses may not be made, nor will respondents be notified of the NHLBI evaluation of the information received.  No basis for claims against the NHLBI shall arise as a result of a response to this request for information or the NHLBI’s use of such information as either part of our evaluation process or in developing specifications for any subsequent announcement.  Responses will be held confidential. Any proprietary information should be so marked.


Ellen M. Werner, Ph.D.
Program Director
Blood Diseases Branch
National Heart, Lung, and Blood Institute
National Institutes of Health
6701 Rockledge Dr. MSC 7950
Bethesda, MD 20892-7950
Phone: 301-435-0050
Fax: 301-480-1046

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