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Genetic Hemoglobin Disorders and Their Association with Hemoglobin Concentration and Biomarkers of Nutritional Anemia

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Nutritional Anemia

Part of the book series: Nutrition and Health ((NH))

Abstract

Genetic hemoglobin disorders are autosomal-recessive conditions that can result in a decreased production of hemoglobin or structurally variant forms of hemoglobin. Genetic hemoglobin disorders are generally categorized as either structural hemoglobin variants (e.g., Hb S or sickle cell) or thalassemia (i.e., α- or β-thalassemia). It is well-established that individuals with some genetic hemoglobin disorders have lower hemoglobin concentrations regardless of iron status. Certain genetic hemoglobin disorders are thought to cause higher red blood cell turnover, due to chronic hemolysis and increased erythropoiesis seen in hereditary hemolytic conditions. Requirements of nutrients involved in erythropoiesis, including iron, soluble transferrin receptor (sTfR), zinc, folate, vitamins B6 and B12, and riboflavin are therefore thought to be increased in individuals with genetic hemoglobin disorders, especially if dietary intake is marginal. Conversely, deficiencies of these micronutrients can contribute to significant alterations in erythropoiesis. We systematically reviewed the literature for studies that measured ferritin, sTfR, zinc, folate, vitamin B12, vitamin B6, and riboflavin concentrations in individuals with genetic hemoglobin disorders as compared to controls. Overall, in study populations with genetic hemoglobin disorders, concentrations of mean or median ferritin and sTfR were higher compared with control study populations, and concentrations of zinc were lower than compared with control study populations. Vitamins B12 and B6 tended to be either lower or similar in those with genetic hemoglobin disorders as compared to control populations. For folate, we found discrepancies in the literature as to whether or not concentrations differed among those with and without genetic hemoglobin disorders, which may be attributable to routine prophylactic high-dose folic acid supplementation in some populations. Erythrocyte glutathione reductase activation coefficients (EGRac), an indicator of functional riboflavin deficiency, tended to be either higher or similar in those with genetic hemoglobin disorders as compared to control populations; however, data on this nutrient are limited to only four studies. Continuing advancements in the medical care (e.g. hydroxyurea therapy or B-vitamin supplementation) may further influence B-vitamin status in individuals with hemoglobinopathies. In conclusion, in individuals with genetic hemoglobin disorders, anemia may persist regardless of iron status, and iron or other nutritional interventions may not be effective to reduce, treat or prevent anemia in these individuals. Further, in individuals with some genetic hemoglobin disorders, biomarkers of nutritional anemia may not accurately represent an individual’s nutritional status and nutritional deficiency prevalence may be falsely underestimated or overestimated in populations with genetic hemoglobin disorders.

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Author information

Authors and Affiliations

  1. Human Nutrition, The University of British Columbia, Vancouver, BC, Canada

    Crystal D. Karakochuk

  2. Food Nutrition and Health, The University of British Columbia, Vancouver, BC, Canada

    Brock A. Williams

  3. BC Children’s Hospital Research Institute, Vancouver, BC, Canada

    Brock A. Williams

  4. School of Human Nutrition, McGill University, Sainte-Anne-de-Bellevue, QC, Canada

    Aviva I. Rappaport

Authors
  1. Crystal D. Karakochuk
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  2. Aviva I. Rappaport
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  3. Brock A. Williams
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Corresponding author

Correspondence to Crystal D. Karakochuk .

Editor information

Editors and Affiliations

  1. Human Nutrition, The University of British Columbia, Vancouver, BC, Canada

    Crystal D. Karakochuk

  2. Institute of Food Nutrition and Health, ETH Zurich, Zürich, Zürich, Switzerland

    Michael B. Zimmermann

  3. Department of Health, University of Applied Sciences of South Switzerland (SUPSI) and Swiss Distance University of Applied Sciences (FFHS), Zürich, Zürich, Switzerland

    Diego Moretti

  4. International Health, Sight and Life Foundation and Johns Hopkins School of Public Health, Basel, Switzerland

    Klaus Kraemer

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Karakochuk, C.D., Rappaport, A.I., Williams, B.A. (2022). Genetic Hemoglobin Disorders and Their Association with Hemoglobin Concentration and Biomarkers of Nutritional Anemia. In: Karakochuk, C.D., Zimmermann, M.B., Moretti, D., Kraemer, K. (eds) Nutritional Anemia. Nutrition and Health. Springer, Cham. https://doi.org/10.1007/978-3-031-14521-6_19

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  • DOI: https://doi.org/10.1007/978-3-031-14521-6_19

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