Thyroid-Stimulating Hormone and Free Thyroxine Levels in Persons with <i>HFE</i> C282Y Homozygosity, a Common Hemochromatosis Genotype: The HEIRS Study

Barton, James C.; Leiendecker–Foster, Catherine; Reboussin, David M.; Adams, Paul C.; Acton, Ronald T.; Eckfeldt, John H.

doi:10.1089/thy.2008.0091

Cited by 17 publications

(29 citation statements)

References 45 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…C282Y homozygotes diagnosed in the HEIRS Study and control subjects were invited to participate in a clinical examination that included listing of participants’ medications and collection of blood samples for additional testing (McLaren et al. , 2003; Barton et al. , 2008).…”

Section: Methodsmentioning

confidence: 99%

“…, 2008). Among control participants, a subset was selected that was frequency matched to the group of C282Y homozygotes (Barton et al. , 2008).…”

Section: Methodsmentioning

confidence: 99%

“…We defined erythrocytosis as Hb greater than the upper reference limit (177 g/l, men; 157 g/l, women). Serum concentrations of thyroid‐stimulating hormone (TSH) and free T4 were measured using a Siemens/Bayer ADVIA Centaur® immunoassay analyzer (Siemens Corporation, New York, NY, USA) (Barton et al. , 2008).…”

Section: Methodsmentioning

confidence: 99%

See 2 more Smart Citations

Relationships of serum free thyroxine and erythrocyte measures in euthyroid HFE C282Y homozygotes and control subjects: the HEIRS Study

Barton

Leiendecker–Foster

Reboussin

et al. 2010

Int J Lab Hematology

View full text Add to dashboard Cite

Hemoglobin (Hb) levels and mean corpuscular volume (MCV) are abnormal in some persons with hemochromatosis or thyroid disorders. We sought to determine whether serum free thyroxine (T4) affects erythrocyte measures in euthyroid adults with or without C282Y homozygosity. We evaluated 488 white HFE C282Y homozygotes and controls (no HFE C282Y or H63D; normal serum iron measures) identified in screening; we excluded those with thyroid disorders, anemia, erythrocytosis, or serum ferritin (SF) <34 pmol/l. In the remaining 141 C282Y homozygotes and 243 controls, we evaluated correlations of log(10) free T4 with Hb, RBC, MCV, and red blood cell distribution width (RDW). C282Y homozygotes had lower mean age, higher mean Hb, MCV, and log(10) SF, and lower mean RBC and RDW than controls; mean log(10) free T4 did not differ significantly. In HFE C282Y homozygotes, there was no significant correlation of log(10) T4 with erythrocyte measures. In controls, there was a positive correlation of log(10) T4 with Hb (P = 0.0096) and a negative correlation with RDW (P = 0.0286). Among euthyroid white adults without iron deficiency, there are significant correlations of log(10) free T4 with Hb and RDW in controls, but not in HFE C282Y homozygotes.

show abstract

Section: Methodsmentioning

confidence: 99%

“…, 2008). Among control participants, a subset was selected that was frequency matched to the group of C282Y homozygotes (Barton et al. , 2008).…”

Section: Methodsmentioning

confidence: 99%

See 1 more Smart Citation

Relationships of serum free thyroxine and erythrocyte measures in euthyroid HFE C282Y homozygotes and control subjects: the HEIRS Study

Barton

Leiendecker–Foster

Reboussin

et al. 2010

Int J Lab Hematology

View full text Add to dashboard Cite

show abstract

“…Nevertheless, in two studies of 100 to 200 homozygote C282Y patients, the prevalence of hypo- and hyperthyroidism that was below 1% did not differ from that of the control group [67]. Dysthyroidism was however more frequent in acquired haemochromatosis.…”

Section: Dysthyroidismmentioning

confidence: 99%

Endocrine manifestations related to inherited metabolic diseases in adults

Vantyghem

Dobbelaere

Mention

et al. 2012

Orphanet J Rare Dis

View full text Add to dashboard Cite

Most inborn errors of metabolism (IEM) are recessive, genetically transmitted diseases and are classified into 3 main groups according to their mechanisms: cellular intoxication, energy deficiency, and defects of complex molecules. They can be associated with endocrine manifestations, which may be complications from a previously diagnosed IEM of childhood onset. More rarely, endocrinopathies can signal an IEM in adulthood, which should be suspected when an endocrine disorder is associated with multisystemic involvement (neurological, muscular, hepatic features, etc.). IEM can affect all glands, but diabetes mellitus, thyroid dysfunction and hypogonadism are the most frequent disorders. A single IEM can present with multiple endocrine dysfunctions, especially those involving energy deficiency (respiratory chain defects), and metal (hemochromatosis) and storage disorders (cystinosis). Non-autoimmune diabetes mellitus, thyroid dysfunction and/or goiter and sometimes hypoparathyroidism should steer the diagnosis towards a respiratory chain defect. Hypogonadotropic hypogonadism is frequent in haemochromatosis (often associated with diabetes), whereas primary hypogonadism is reported in Alström disease and cystinosis (both associated with diabetes, the latter also with thyroid dysfunction) and galactosemia. Hypogonadism is also frequent in X-linked adrenoleukodystrophy (with adrenal failure), congenital disorders of glycosylation, and Fabry and glycogen storage diseases (along with thyroid dysfunction in the first 3 and diabetes in the last). This is a new and growing field and is not yet very well recognized in adulthood despite its consequences on growth, bone metabolism and fertility. For this reason, physicians managing adult patients should be aware of these diagnoses.

show abstract

“…Anemia was defined as Hb below lower reference limit 117 g/L [3]. Reference range for MCV was 80.0–97.0 fL.…”

Section: Methodsmentioning

confidence: 99%

Common TMPRSS6 mutations and iron, erythrocyte, and pica phenotypes in 48 women with iron deficiency or depletion

Lee

Barton

Khaw

et al. 2012

Blood Cells, Molecules, and Diseases

Self Cite

View full text Add to dashboard Cite

Background TMPRSS6 A736V is associated with lower transferrin saturation (TS), hemoglobin (Hb), and mean corpuscular volume (MCV) levels in general adult populations. We sought to identify relationships of TMPRSS6 K253E, A736V, and Y739Y to iron, erythrocyte, and pica phenotypes in women with iron deficiency or depletion. Methods We tabulated observations on 48 outpatient non-pregnant women who had iron deficiency (serum ferritin (SF) <14 pmol/L and TS <10%) or iron depletion (SF<112 pmol/L). We performed direct sequencing of TMPRSS6 exons 7 and 17 in each patient. We used age, TS, SF, Hb, MCV, pica, and TMPRSS6 allele positivity (dichotomous) or mutation genotypes (trichotomous) as variables for analyses. Results Forty-six women were white; two were black. 58.3% had iron deficiency. 45.8% had pica (pagophagia, each case). Allele frequencies were 41.7% (K253E), 36.5% (A736V), and 39.6% (Y739Y). K253E frequency was greater in women with TS ≥10% (p = 0.0001). Y739Y was more frequent in women with TS <10% (p = 0.0135). Mean TS was also lower in women positive for Y739Y (6 ± 4% vs. 13 ± 16%, respectively; p = 0.0021). In multiple regressions, neither K253E, A736V, nor Y739Y genotypes were significantly associated with other variables. Conclusions TMPRSS6 K253E frequency was greater in women with TS ≥10%. Frequency of Y739 was greater in women with TS <10%. Mean TS was lower in women with Y739Y. We observed no other significant relationship of TMPRSS6 K253E, A736V, or Y739Y with iron, erythrocyte, or pica phenotypes.

show abstract

Thyroid-Stimulating Hormone and Free Thyroxine Levels in Persons with HFE C282Y Homozygosity, a Common Hemochromatosis Genotype: The HEIRS Study

Cited by 17 publications

References 45 publications

Relationships of serum free thyroxine and erythrocyte measures in euthyroid HFE C282Y homozygotes and control subjects: the HEIRS Study

Relationships of serum free thyroxine and erythrocyte measures in euthyroid HFE C282Y homozygotes and control subjects: the HEIRS Study

Endocrine manifestations related to inherited metabolic diseases in adults

Common TMPRSS6 mutations and iron, erythrocyte, and pica phenotypes in 48 women with iron deficiency or depletion

Contact Info

Product

Resources

About