The Iron Status of Italian Subjects with Beta-Thalassemia Trait

Taddei, M.T.; Cappellini, Maria Domenica; Piperno, Alberto; Fiorelli, G.

doi:10.1159/000206961

Cited by 8 publications

(7 citation statements)

References 6 publications

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“…None of these cases were suffering from any chronic inflammatory disorder, liver disorder, idiopathic haemochromatosis or haematologic malignancy which can also raise serum ferritin levels [8][9][10], These findings substantiate the concept that car riers of the P-thalassaemia trait are frequently in a posi tive iron balance and are at high risk of developing an iron overload. Similar results have been reported by other research workers [5,11,12],…”

Section: Discussionsupporting

confidence: 93%

“…It is very important to distinguish between these two entities [1,2], Pakistan also lies in the thalassaemia belt where about 5% of the individuals have the P-thalassaemia trait [3,4], These individuals are often errone ously treated with iron although frequently they are in a positive iron balance. Administration of iron to these cases can actually prove harmful [5]. However both iron deficiency and the P-thalassaemia trait may coexist in the same patient.…”

Section: Introductionmentioning

confidence: 99%

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Serum Ferritin Levels in Carriers of β-Thalassaemia Trait

et al. 1995

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Hypochromic and microcytic red cell morphology is the most commonly encountered abnormality in a clinical laboratory. Most of such cases have iron deficiency anaemia. However, in Pakistan about 5% of the individuals with a hypochromic and microcytic blood picture have the β-thalassaemia trait. These individuals are more than often in a positive iron balance. However iron deficiency (being common) may be associated with the β-thalassaemia trait. This study of serum ferritin levels was carried out on 135 confirmed cases of the β-thalassaemia trait. A ferritin assay was done by a radioimmunoassay technique. The results show that the level of serum ferritin in 100 (74%) cases was within normal limits, in 17 (12.6%) cases it was above the normal range, whereas in 18 (13.4%) cases the level was lower than normal. The importance of serum ferritin estimation in carriers of the β-thalassaemia trait is highlighted.

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Section: Discussionsupporting

confidence: 93%

Section: Introductionmentioning

confidence: 99%

Serum Ferritin Levels in Carriers of β-Thalassaemia Trait

et al. 1995

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“…High levels of serum ferritin have been observed in beta-thalassemia trait comparative studies, and even those who had never been transfused developed clinical and laboratory signs of iron overload (Edwards et al, 1981;Fargion et al, 1982Fargion et al, , 1985Piperno et al, 2000). The pathophysiology of this complication associated with heterozygous thalassemia is unclear.…”

Section: Introductionmentioning

confidence: 99%

Serum ferritin and transferrin saturation levels in β0 and β+ thalassemia patients

Estevão¹,

Peitl²,

Bonini-Domingos³

2011

Genet. Mol. Res.

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ABSTRACT.There have been few studies on the mutations that cause heterozygous beta-thalassemia and how they affect the iron profile. One hundred and thirty-eight individuals were analyzed, 90 thalasemic β 0 and 48 thalasemic β + , identified by classical and molecular methods. Mutations in the hemochromatosis (HFE) gene, detected using PCR-RFLP, were found in 30.4% of these beta-thalassemic patients; heterozygosity for H63D (20.3%) was the most frequent. Ferritin levels and transferrin saturation were similar in beta-thalassemics with and without mutations in the HFE gene. Ferritin concentrations were significantly higher in men and in individuals over 40 years of age. Transferrin saturation also was significantly higher in men, but only in those without HFE gene mutations. There was no significant difference in the iron profile among the β 0 and β + thalassemics, with and without HFE gene mutations. The frequency of ferritin values above 200 ng/mL in women and 300 ng/ mL in men was also similar in β 0 and β + thalassemics (P > 0.72). Our conclusion is that ferritin levels are variable in the beta-thalassemia, trait regardless of the type of beta-globin mutation. Furthermore, HFE gene polymorphisms do not change the iron profile in these individuals.

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“…The IVS5#1G→A was also identified in a hereditary hemochromatosis patient of Vietnamese origin [5]. It is well known that patients with thalassemia have iron overload due to increased iron absorption, regular transfusion, anemia and increased erythropoiesis [6, 7]. Therefore, the presence of the HFE mutation may adversely affect iron loading in thalassemia carriers.…”

Section: Introductionmentioning

confidence: 99%

H63D Mutation of the Hemochromatosis Gene and Serum Ferritin Levels in Thai Thalassemia Carriers

et al. 2007

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We determined the prevalence of the H63D and the IVS5#1G-A HFE mutations in 370 (169 males and 201 females) Thai thalassemia carriers and 201 normal subjects. While no IVS5#1G-A mutation was found, the H63D heterozygosity was identified in 5.5% (11/201) of normal subjects and 7.3% (27/370) of thalassemia carriers. Within the thalassemic group, the medians (ranges) of serum ferritin were 217.5 ng/ml (20.1–424.3) and 169.8 ng/ml (3.9–3,536.0) in male subjects and 30.4 ng/ml (11.9–130.7) and 49.3 ng/ml (0.6–931.0) in female subjects with (HD) and without (HH) H63D mutation, respectively. The proportions of subjects with elevated ferritin were found to be 37.5% (6/16) for HD and 14.0% (18/129) for HH in male and 0% (0/11) for HD and 3.0% (5/164) for HH in female subjects, respectively. Statistical analysis of all the data revealed no significant difference. Among 14 Hb E/β-thalassemia patients, no difference in hematological data as well as serum ferritin levels was observed between those with (HD) and without (HH) H63D mutation. Therefore, the H63D heterozygosity has no significant effect on the serum ferritin level and screening for this HFE mutation in thalassemic patients is not recommended.

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The Iron Status of Italian Subjects with Beta-Thalassemia Trait

Cited by 8 publications

References 6 publications

Serum Ferritin Levels in Carriers of β-Thalassaemia Trait

Serum Ferritin Levels in Carriers of β-Thalassaemia Trait

Serum ferritin and transferrin saturation levels in β0 and β+ thalassemia patients

H63D Mutation of the Hemochromatosis Gene and Serum Ferritin Levels in Thai Thalassemia Carriers

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