Hundreds of hereditary disorders can cause anemia. Their diagnosis and management require medical resources available only in specialized centers. Progress in understanding the underlying mechanisms of genetic disorders has been made and new therapeutic approaches are entering human trials. For example, public health programs to ameliorate the clinical course of sickle cell disease with hydroxyurea are underway in Africa. Related research priorities include better genetic epidemiology, including micro mapping of red cell variants; and the development of improved methods for reliable genetic testing, diagnosis, genetic counseling, treatment, and training in each country. Additional research is also needed to understand the risk of iron overload from iron supplementation among people with genetic blood disorders and those who are carriers. Overall, these genetic disorders of the red blood cell constitute a neglected global health problem that needs better prevention and management policies.
We found 6 resource(s)
Preconception Risk Assessment for Thalassaemia, Sickle Cell Disease, Cystic Fibrosis, and Tay‐Sachs Disease
Systematic Review published by Cochrane Library in
This study assess the effectiveness of systematic preconception genetic risk assessment to improve reproductive outcomes in women and their partners who are both identified as carriers of thalassemia, sickle cell disease, cystic fibrosis and Tay‐Sachs disease in healthcare settings, when compared to usual care.
Can Automated Hematology Analyzers Predict the Presence of a Genetic Hemoglobinopathy? An Analysis of Hematological Biomarkers in Cambodian Women
Journal Article published by Diagnostics (Basel) in
This study evaluated the accuracy of a Sysmex XN-1000 hematology analyzer in identifying genetic hemoglobinopathies in nonpregnant Cambodian women and to assess the ability of six complete blood count biomarkers to predict a genetic hemoglobinopathy.
Anemia Epidemiology, Pathophysiology, and Etiology in Low- and Middle-Income Countries
Journal Article published by Ann N Y Acad Sci in
This review outline definitions and classifications of anemia, describe the biological mechanisms through which anemia develops, and reviews the variety of conditions that contribute to anemia development.
Genetic Variation Influencing Hemoglobin Levels and Risk for Anemia Across Populations
Journal Article published by Ann N Y Acad Sci in
This narrative review describes the underlying genetic factors that affect hemoglobin concentrations, their clinical relevance, and geographical distribution across populations around the globe.
Six Key Actions to Reduce Anemia
Toolkit published by SPRING in
This brief describes country-led efforts to coordinate and implement anemia prevention and control, offering lessons learned to help other countries design the best possible solutions.
The Inherited Disorders of Hemoglobin: An Increasingly Neglected Health Burden
Literature Review published by Indian Journal of Medical Research in
This review presents current global estimates of common inherited hemoglobin disorders such as sickle cell anemia and ß-thalassemia, and highlights the lack of evidence and the need for further research and collaboration in this area.
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