Hemochromatosis and Iron Overload Screening Study (HEIRS)

Note that you will be prompted to log in or register an account

Accession Number
HLB00690919a

Study Type
Epidemiology Study

Collection Type
Open BioLINCC Study See bottom of this webpage for request information

Study Period
January 2000 - January 2006

NHLBI Division
DCVS

Dataset(s) Last Updated
May 3, 2019

Clinical Trial URLs
NCT00005541

Primary Publication URLs
N/A

Consent

Commercial Use Data Restrictions No

Data Restrictions Based On Area Of Research Yes

Commercial Use Specimen Restrictions No

Non-Genetic Use Specimen Restrictions Based On Area Of Use Yes

Genetic Use Of Specimens Allowed? Yes

Genetic Use Area Of Research Restrictions Yes

Specific Consent Restrictions
Use of biospecimens and data is generally restricted to iron-related and hereditary hemochromatosis studies. A subset of biospecimens and data are available for broader use.

Objectives

The HEIRS Study evaluated the prevalence and genetic and environmental determinants and potential clinical, personal, and societal impact of iron overload and hereditary hemochromatosis in a multi-center, multiethnic, primary care-based sample of adults.

Background

Hereditary iron overload, or hemochromatosis, is a common inherited disorder resulting from overabsorption of dietary iron. Excess iron is deposited in body tissues, and can accumulate to toxic levels over time causing damage in multiple organ systems. If untreated, these conditions may lead to death. Evidence suggests that early diagnosis and treatment can prevent disease manifestations and enable normal life expectancy. Thus, hemochromatosis may be suitable for detection and intervention through primary care screening strategies; however, much remains to be learned about the penetrance and expression of the known gene variants, HFE C282Y and H63D, associated with hemochromatosis. Iron overload and hereditary hemochromatosis have not been as extensively studied in racial/ethnic groups other than Caucasians.

Participants

The initial screen phase included 102,000 adults recruited over a 2-year period from 5 North American Field Centers (approx. 51% white, 24% African American, 11% Asian, 11% Hispanic, and 3% unidentified race; 63% are female and 37% are male).

Design

During the initial screen phase in 2001-2002, participants were recruited from primary care practices and blood-drawing laboratories. Blood specimens were tested for transferrin saturation (TS), serum ferritin (SF), and HFE C282Y and H63D genetic variants. Before genetic screening, participants were asked whether they had a history of medical conditions related to iron overload. Those participants with elevated iron levels and/or C282Y homozygosity, their family members, and frequency-matched control participants completed an examination that obtained data on personal and family medical history, lifestyle characteristics, genetic counseling and assessment of ethical, legal and social implications of screening, as well as clinical and biochemical measures. A separate randomized study examined the acceptability of genotypic or phenotypic (biochemical) screening for hemochromatosis.

The majority of HEIRS participants have a consent limited to research on iron related disorders; however, specimens and data from ~6770 participants are available for broader research use.

Conclusions

Findings include: 1) transferrin saturation (TS) and serum ferritin (SF) mean levels differ across race/ethnic groups; 2) HFE C282Y variant does not account for these levels in non-Caucasians (Adams et al, NEJM 352:1769-78, 2005); and 3) there is similar participant acceptance for genotypic as for phenotypic testing (Anderson et al, Genet Med. 7:557-63, 2005).

Additional Details

Subjects:

Cases: 1678

Controls: 641

Screened Only: 99623

30th June 2025

Age:

 

Screened Only

Case

Control

Total

Missing

123

0

0

123

25-29

7,209

62

29

7,300

30-34

8,734

90

30

8,854

35-39

9,771

120

44

9,935

40-44

11,265

153

50

11,468

45-49

12,397

218

89

12,704

50-54

12,580

258

83

12,921

55-59

10,789

211

87

11,087

60-64

9,099

192

61

9,352

65-69

6,860

158

69

7,087

70-74

5,048

97

47

5,192

75-79

3,413

77

32

3,522

80-84

1,676

33

17

1,726

85-89

506

9

*S

517

90

152

0

*S

153

*S:  Values have been suppressed due to small counts.

Sex:

 

Screened Only

Case

Control

Total

Missing

12

0

0

12

Male

36,685

930

240

37,855

Female

62,925

748

401

64,074

Race:

 

Screened Only

Case

Control

Total

Hispanic

12,682

126

56

12,864

Asian/Pacific Islander

13,300

466

111

13,877

African American

27,154

288

92

27,534

Caucasian

43,907

762

367

45,036

Other

2,579

36

15

2,630

Please note that biospecimen availability is subject to review by the NHLBI, BioLINCC, and the NHLBI Biorepository. Certain biospecimens may not be made available for your request. Section 3 of the BioLINCC handbook describes the components of the review process

Visits (Vials):

30th June 2025
 

 

Serum

Plasma

Lymphocytes

DNA

Buffy Coat

Dried Buffy Coat

Total

Screening

53,577

10

18

2,710

73,227

80,386

209,928

Comprehensive Clinical Exam

11,192

4,578

7,968

20,557

2

2

44,299

Visits (Subjects):

30th June 2025
 

 

Serum

Total number of subjects

Average volume (ml) per subject

Screening

49,780

0.57

Comprehensive Clinical Exam

2,237

2.91

 

 

Plasma

Total number of subjects

Average volume (ml) per subject

Screening

5

1.00

Comprehensive Clinical Exam

2,225

1.21

 

 

Lymphocytes

Total number of subjects

Average vials per subject

Screening

5

3.60

Comprehensive Clinical Exam

2,208

3.61

 

 

Buffy Coat

Total number of subjects

Average vials per subject

Screening

71,518

1.02

Comprehensive Clinical Exam

2

1.00

 

 

Dried Buffy Coat

Total number of subjects

Average vials per subject

Screening

78,627

1.02

Comprehensive Clinical Exam

2

1.00

 

 

DNA

Total number of subjects

Average mass (µg) per subject

Average vials per subject

Screening

1,975

109.77

1.37

Comprehensive Clinical Exam

2,233

318.98

9.21

Please note that researchers must be registered on this site to submit a request, and you will be prompted to log in. If you are not registered on this site, you can do so via the Request button. Registration is quick, easy and free.

Resources Available

Specimens and Study Datasets

Materials Available

  • Buffy Coat
  • DNA
  • Dried Buffy Coat
  • Lymphocytes
  • Plasma
  • Serum
  • More Details

Study Documents

Persons using assistive technology may not be able to fully access information in the study documents. For assistance, Contact BioLINCC and include the web address and/or publication title in your message. If you need help accessing information in different file formats such as PDF, XLS, DOC, see Instructions for Downloading Viewers and Players.