Quality of life in hereditary haemochromatosis: Scoping review of symptoms and initial ranking of symptoms by a special interest group

Table 1 Characteristics of included studies

Ref.	Study design	Year published	Country	Sample size	Duration of follow up	QoL tool/or other measure
Acevedo et al[16]	Longitudinal	2022	Brazil	65	About 3 years	SF-36
Adams et al[17]	Cross-sectional	1996	Canada	50	NA	MOS-SF36
Adams et al[18]	Longitudinal	2021	Canada	527 C282Y homozygotes and 12879 controls	Median 17.7 years	Linked health administrative database
de Graaff et al[19]	Cross-sectional	2016	Australia	221	NA	AQOL-4D, HSUV
Meiser et al[20]	Longitudinal	2005	Australia	101	12 months	SF-36 (mental health component scores)
Hicken et al[21]	Cross-sectional	2004	United States	118 younger adults, 50 older adults	NA	Self-reported attitudes towards genetic testing
Hicken et al[22]	Cross-sectional	2004	United States	87 patients, 50 controls	NA	Structured interviews and self-reported psychosocial outcomes
Adams et al[23]	Decision analysis	1995	Canada	170 hemochromatosis homozygotes	NA	NA
Gallego et al[24]	Longitudinal	2015	United States	98 homozygotes, 397 compound heterozygotes	NA	NA
Sherrington et al[25]	Population-based study	2006	Australia	1372 hereditary haemochromatosis patients	NA	Questionnaire and physical examination
Ryan et al[26]	Observational study	2002	Ireland	109 (79 C282Y homozygotes, 30 hereditary haemochromatosis probands)	Not provided	Not specified
Ellervik et al[27]	Meta-analysis	2007	Denmark	202 studies, 66263 cases, 226515 controls	NA	Not specified
Sahinbegovic et al[28]	Cross-sectional observational study	2010	Germany	199 hereditary haemochromatosis patients	Not provided	Not specified
Beutler et al[29]	Cross-sectional observational study	2002	United States	41038 individuals	Not provided	Not specified
Allen et al[30]	Cohort study	2008	Australia	31192 participants	12 years	Not specified
Pilling et al[1]	Cohort study	2019	United Kingdom	451243 participants	7 years	Not specified
McCune et al[31]	Observational study	2006	South Wales	239 first-degree relatives of 116 index cases	Not provided	SF-36 version 2
McDonnell et al[32]	Cross-sectional study	1999	United States	2851 respondents	Not provided	Not specified
McNeil et al[33]	Observational study	1983	United States	10 hereditary haemochromatosis patients	Not provided	Not specified
Milman et al[34]	Nationwide survey	2001	Denmark	179 hereditary haemochromatosis patients	Median 8.5 years	Not specified
Shaheen et al[35]	Survey	2003	United States	126 subjects with hereditary haemochromatosis and 46 sibling controls	Not provided	SF-36 and SCL-90-R
Ong et al[36]	Prospective, multicentre, randomised patient-blinded trial	2015	Australia	Not provided	Not specified	MFIS, HADS, SF36v2, AIMS2-SF
Ong et al[37]	Multicentre, participant-blinded, randomised controlled trial	2017	Australia	104	Not specified	MFIS
Adams et al[38]	Retrospective analysis	1991	Canada	93	Not specified	Not specified
Adams et al[39]	Retrospective analysis	1991	Canada	85	Mean 8.1 years (range 0-31)	Not specified
Adams et al[40]	Retrospective analysis	1997	Canada, France	410	Not specified	Not specified
Adams et al[41]	Cross-sectional study	2005	Canada, France	99711	Not specified	Not specified
Fonseca et al[42]	Observational study	2018	Brazil	79	Not specified	SF-36
Brissot et al[15]	Cross-sectional study (online survey)	2011	United States, France, Ireland, United Kingdom	210	Not specified	Not specified
Pilling et al[43]	Cohort study	2022	United Kingdom	2890 (1294 males, 1596 females)	Up to 14 years	Polygenic scores
Moirand et al[44]	Cross-sectional study	1997	France and Canada	352 (176 women, 176 men)	Not specified	Not specified
Rossi et al[45]	Cross-sectional study	2001	Australia	3010 (1488 females, 1522 males)	Not specified	Not specified
Sánchez-Luna et al[46]	Retrospective cohort study	2017	United States	162 (118 C282Y homozygotes, 44 compound heterozygotes)	10 years	Not specified
van der Plas et al[47]	Cross-sectional study	2007	Netherlands	Not provided	Not specified	Liver Disease Symptom Index, Short Form-36, Multidimensional Fatigue Index-20
Smith et al[48]	Cross-sectional survey	2018	International (predominantly United Kingdom)	About 2000	Not specified	Survey (self-reported symptoms and experiences)
Tamosauskaite et al[49]	Cross-sectional study	2019	United Kingdom	200975	Not specified	Not specified
Dallos et al[50]	Cross-sectional study	2010	European Union	170	Not specified	Radiographic scoring system
Wenzel et al[51]	Cohort study	2007	United States and Canada	1478	Approximately 1 week after screening results	Health-related QoL assessments and health worries survey
Adams et al[52]	Cross-sectional study	1992	Canada	57 families	Not specified	Not specified
Altes et al[53]	Cross-sectional study	2007	Spain	100 C282Y homozygous probands	Not specified	Not specified
Bomford et al[6]	Observational study	1976	Canada	85 treated patients, 26 untreated patients	Not specified	Not specified
Cheng et al[54]	Observational study	2009	United States	182 hereditary haemochromatosis patients	Not specified	Not specified
Dar et al[55]	Retrospective review	2009	United Kingdom	22 hereditary haemochromatosis patients post liver transplant	46 months	Not specified
Fargion et al[56]	Retrospective cohort study	1992	Italy	212 patients (181 men, mean age 50 +/- 11 year; 31 women, mean age 49 +/- 10 year)	44 months	Not specified
Hamilton et al[57]	Longitudinal study	1981	Not specified	18 hereditary haemochromatosis patients	10 years	Not specified
Mohammad et al[58]	Cross-sectional study	2013	Ireland	395 patients	1 year	Not specified
Waalen et al[59]	Observational study	2002	United States	41599 subjects screened; 124 filled out questionnaire; 17 completed physician interview	2 years	Not specified

SF 36: 36 item short form health survey; MOS-SF36: Medical outcomes study 36-item short-form health survey; AQoL-4D: Assessment of quality of life-4 dimensions; HSUV: Health state utility value; SCL-90-R: Symptom checklist-90-revised; MFIS: Modified fatigue impact scale; HADS: Hospital anxiety and depression scale; SF-36v2: 36-item short form health survey, version 2; AIMS2-SF: Arthritis impact measurement scales 2- short form; NA: Not available.