Hemochromatosis and Iron Overload Screening Study (HEIRS)

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

Date Prepared
January 29, 2009

Last Updated
April 13, 2009

Clinical Trial URLs
https://clinicaltrials.gov/ct2/s...

Primary Publication URLs
N/A

Study Website
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.

Subjects

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

Study Population

Subjects:

Cases: 1678

Controls: 641

Screened Only: 99623

Age:

	Screened Only		Case		Control		All
	N	%	N	%	N	%	N	%
Missing	123	0.12	.	.	.	.	123	0.12
25-29	7209	7.24	62	3.69	29	4.52	7300	7.16
30-34	8734	8.77	90	5.36	30	4.68	8854	8.69
35-39	9771	9.81	120	7.15	44	6.86	9935	9.75
40-44	11265	11.31	153	9.12	50	7.80	11468	11.25
45-49	12397	12.44	218	12.99	89	13.88	12704	12.46
50-54	12580	12.63	258	15.38	83	12.95	12921	12.67
55-59	10789	10.83	211	12.57	87	13.57	11087	10.88
60-64	9099	9.13	192	11.44	61	9.52	9352	9.17
65-69	6860	6.89	158	9.42	69	10.76	7087	6.95
70-74	5049	5.07	97	5.78	47	7.33	5193	5.09
75-79	3413	3.43	77	4.59	32	4.99	3522	3.45
80-84	1676	1.68	33	1.97	17	2.65	1726	1.69
85-89	506	0.51	9	0.54	2	0.31	517	0.51
90	152	0.15	.	.	1	0.16	153	0.15

Sex:

	Screened Only		Case		Control		All
	N	%	N	%	N	%	N	%
Missing	12	0.01	.	.	.	.	12	0.01
Male	36686	36.82	930	55.42	240	37.44	37856	37.13
Female	62925	63.16	748	44.58	401	62.56	64074	62.85

Race:

	Screened Only		Case		Control		All
	N	%	N	%	N	%	N	%
Hispanic	12682	12.73	126	7.51	56	8.74	12864	12.62
Asian/Pacific Islander	13301	13.35	466	27.77	111	17.32	13878	13.61
African American	27154	27.26	288	17.16	92	14.35	27534	27.01
Caucasian	43907	44.07	762	45.41	367	57.25	45036	44.18
Other	2579	2.59	36	2.15	15	2.34	2630	2.58

Available Biospecimens

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):

04/24/2019

	Serum	Plasma	Lymphocytes	DNA	Buffy Coat	Dried Buffy Coat	Total
Screening	83,399	10	18	3,007	79,387	81,121	246,942
Comprehensive Clinical Exam	11,191	4,578	7,968	20,636	2	2	44,377

Visits (Subjects):
04/24/2019

	Serum
	Total number of subjects	Average volume (ml) per subject
Screening	78,880	0.55
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	77,455	1.02
Comprehensive Clinical Exam	2	1.00

	Dried Buffy Coat
	Total number of subjects	Average vials per subject
Screening	78,627	1.03
Comprehensive Clinical Exam	2	1.00

	DNA
	Total number of subjects	Average mass (µg) per subject	Average vials per subject
Screening	2,136	110.62	1.41
Comprehensive Clinical Exam	2,233	307.25	9.24

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Resources Available

Specimens and Study Datasets

Study Catalog

Study Publications (6)

Materials Available

Buffy Coat
DNA
Dried Buffy Coat
Lymphocytes
Plasma
Serum
More Details

Study Documents

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