Hematologic Changes and Hemoglobin Analysis in β Thalassemia Heterozygotes during the First Year of Life

Wood, W. G.; Weatherall, D. J.; Hart, G. H.; Bennett, Melissa W.; Marsh, G W

doi:10.1203/00006450-198204000-00008

Cited by 10 publications

(5 citation statements)

References 17 publications

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“…On the contrary to Hb F, a trend toward increased Hb A 2 expression during 6‐23 months of age was observed though statistical significance was not reached during 12‐18 months of age. Similarly, results from an earlier study that followed the changes in Hb A 2 levels in normal and β‐thal heterozygotes showed a gradually increased Hb A 2 during the first year of life . These findings suggest that, despite the low expression, the δ‐globin gene may remain active during the first two years of life.…”

Section: Discussionsupporting

confidence: 65%

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Hemoglobins F, A₂, and E levels in Laotian children aged 6‐23 months with Hb E disorders: Effect of age, sex, and thalassemia types

Kingchaiyaphum

Sanchaisuriya

Fucharoen

et al. 2020

Int J Lab Hematology

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Introduction: Determination of hemoglobins (Hbs) F, A 2, and E is crucial for diagnosis of thalassemia. This study determined the levels of Hbs F, A 2, and E in children aged 6-23 months and investigated the effect of age, sex, and types of thalassemia on the expression of these Hbs.Methods: A total of 698 blood samples of Laotian children including 272 non-Hb E, 271 Hb E heterozygotes, and 155 Hb E homozygotes were collected. Hb profiles were determined using the capillary zone electrophoresis. Coinheritance of α-thalassemia and the homozygosity for Hb E mutation were checked by PCR-based assay.Results: Children heterozygous and homozygous for Hb E had significantly higher Hb F and A 2 levels than non-Hb E children (median Hb F = 1.1% for non-Hb E group, 2.7% for Hb E heterozygotes, and 9.4% for Hb E homozygotes; median Hb A 2 = 2.6% for non-Hb E group, 3.8% for Hb E heterozygotes, and 5.2% for Hb E homozygotes).The median Hb E levels were 21.9% for Hb E heterozygotes and 85.3% for Hb E homozygotes. Comparing within group, there was a statistically significant difference between children with and without an α-gene defect for Hb A 2 and E, but not Hb F.Based on a multiple regression analysis, age and sex were significantly associated with the expression of Hb F and A 2 but not Hb E. Conclusions:Our findings can guide the development of a diagnostic approach to thalassemia in children aged 6-23 months.

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Section: Discussionsupporting

confidence: 65%

“…the first year of life. 22 These findings suggest that, despite the low expression, the δ-globin gene may remain active during the first two years of life. Similar to that observed in adults, 7,10,23 the levels of Hb E were affected by the α-thal coinheritance.…”

Section: Discussionmentioning

confidence: 95%

Hemoglobins F, A₂, and E levels in Laotian children aged 6‐23 months with Hb E disorders: Effect of age, sex, and thalassemia types

Kingchaiyaphum

Sanchaisuriya

Fucharoen

et al. 2020

Int J Lab Hematology

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“…We used HPLC to identify hemoglobin variants, to exclude ΒΤΤ in children aged 3–6 months when HbA 2 < 3.0% and to diagnose BTT in those aged >6 months when HbA 2 > 3.6%. Samples from patients below the age of 3 months were not eligible for inclusion, as HbA 2 is not fully developed at this age and, therefore, cannot be used to rule out BTT . When HbA 2 was in the range 3.2–3.6% and a β + ‐thalassemia was suspected, sequencing of the β‐globin gene was performed by the Department of Medical Genetics (DMG) at Oslo University Hospital Ullevaal, Norway ( n = 2).…”

Section: Methodsmentioning

confidence: 99%

Reticulocyte hemoglobin equivalent to detect thalassemia and thalassemic hemoglobin variants

Sudmann

Piehler

Urdal

2012

Int J Lab Hematology

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Summary Introduction Thalassemia and iron deficiency may both result in hypochromic microcytic anemia. Hematological algorithms that differentiate the two are mainly established in adult selected diagnostic groups. We aimed at creating an algorithm applicable in the presence of children, hemoglobin variants, and iron deficiency. Methods Our study material constituted blood samples referred during 1 year for routine diagnostics of hemoglobinopathy. We included 443 samples, of which 37% were from children 3 months or older. We found β‐thalassemia trait (n = 100), α‐thalassemia (n = 75), combined α‐/β‐thalassemia (n = 14), hemoglobin variants (n = 42), and no‐hemoglobinopathy (n = 207), of whom 107 had a ferritin at or below 20 μg/L. We included reticulocyte hemoglobin equivalent, ferritin, and erythrocyte count in our algorithm. Results Our algorithm differentiated β‐thalassemia trait from no‐hemoglobinopathy with a sensitivity of 99% at 83% specificity. It performed better than other published algorithms when applied to all patient samples, while equally or moderately better in the 63% adult samples. Our algorithm also detected the clinically significant α‐thalassemias, and most of the combined α‐/β‐thalassemias and thalassemic hemoglobin variants. Conclusion Our algorithm efficiently differentiated thalassemia and thalassemic hemoglobin variants from iron deficiency in children and adults.

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“…Three recent prospective studies have shown that DFX is effective in removing iron from the heart (increase in cardiac T2*), although the LVEF remained unchanged 84,85. In one of these studies, the reduction in cardiac iron was observed mainly in patients with mild to moderate liver siderosis 86. DFX did not reduce the iron in the heart of patients who had excessive liver iron overload (usually > 30 mg/g dw).…”

Section: The Evaluation Of Iron Burdenmentioning

confidence: 98%

Treating thalassemia major-related iron overload: the role of deferiprone

Berdoukas¹,

Farmaki²,

Carson³

et al. 2012

JBM

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Over the last 20 years, management for thalassemia major has improved to the point where we predict that patients’ life expectancy will approach that of the normal population. These outcomes result from safer blood transfusions, the availability of three iron chelators, new imaging techniques that allow specific organ assessment of the degree of iron overload, and improvement in the treatment of hepatitis. In October 2011, the Food and Drug Administration licensed deferiprone, further increasing the available choices for iron chelation in the US. The ability to prescribe any of the three chelators as well as their combinations has led to more effective reduction of total body iron. The ability to determine the amount of iron in the liver and heart by magnetic resonance imaging allows the prescription of the most appropriate chelation regime for patients and to reconsider what our aims with respect to total body iron should be. Recent evidence from Europe has shown that by normalizing iron stores not only are new morbidities prevented but also reversal of many complications such as cardiac failure, hypothyroidism, hypogonadism, impaired glucose tolerance, and type 2 diabetes can occur, improving survival and patients’ quality of life. The most effective way to achieve normal iron stores seems to be with the combination of deferoxamine and deferiprone. Furthermore, outcomes should continue to improve in the future. Starting relative intensive chelation in younger children may prevent short stature and abnormal pubertal maturation as well as other iron-related morbidities. Also, further information should become available on the use of other combinations in chelation treatment, some of which have been used only in a very limited fashion to date. All these advances in management require absolute cooperation and understanding of parents, children, and, subsequently, the patients themselves. Only with such cooperation can normal long-term survival be achieved, as adherence to treatment is now likely the primary barrier to longevity.

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Hematologic Changes and Hemoglobin Analysis in β Thalassemia Heterozygotes during the First Year of Life

Cited by 10 publications

References 17 publications

Hemoglobins F, A₂, and E levels in Laotian children aged 6‐23 months with Hb E disorders: Effect of age, sex, and thalassemia types

Hemoglobins F, A₂, and E levels in Laotian children aged 6‐23 months with Hb E disorders: Effect of age, sex, and thalassemia types

Reticulocyte hemoglobin equivalent to detect thalassemia and thalassemic hemoglobin variants

Treating thalassemia major-related iron overload: the role of deferiprone

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Hematologic Changes and Hemoglobin Analysis in β Thalassemia Heterozygotes during the First Year of Life

Cited by 10 publications

References 17 publications

Hemoglobins F, A2, and E levels in Laotian children aged 6‐23 months with Hb E disorders: Effect of age, sex, and thalassemia types

Hemoglobins F, A2, and E levels in Laotian children aged 6‐23 months with Hb E disorders: Effect of age, sex, and thalassemia types

Reticulocyte hemoglobin equivalent to detect thalassemia and thalassemic hemoglobin variants

Treating thalassemia major-related iron overload: the role of deferiprone

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Hemoglobins F, A₂, and E levels in Laotian children aged 6‐23 months with Hb E disorders: Effect of age, sex, and thalassemia types

Hemoglobins F, A₂, and E levels in Laotian children aged 6‐23 months with Hb E disorders: Effect of age, sex, and thalassemia types