Hereditary Anemias: An Overview
Key points
- All children and youth new to Canada should be screened for anemia upon arrival.
- Children and youth should be screened for hemoglobinopathies using high-performance liquid chromatography (HPLC), or hemoglobin electrophoresis, especially if microcytic anemia is present or if they are from high-risk ethnic backgrounds.
- Early recognition of sickle cell disease and significant thalassemia, as well as management by a multidisciplinary team, can reduce significant complications.
- All children and youth of Asian, African and Mediterranean descent should be screened for glucose-6-phosphate dehydrogenase (G6PD) deficiency upon arrival, especially if they are male, if newborn jaundice was prolonged or severe, or if treatment for malaria is required.
An approach to anemia
All children and youth new to Canada should be screened for anemia upon arrival. Those who may have experienced extreme poverty, such as refugees, are at particularly high risk of iron deficiency anemia. Iron deficiency anemia is often due to the complex interaction of malnutrition and chronic or recurrent gastrointestinal parasitic infestations.
Iron deficiency anemia and thalassemia are the most common causes of microcytic anemia in children. Less common causes are anemia of chronic disease/inflammation, lead toxicity and, rarely, sideroblastic anemia.
Children and youth with microcytic anemia should be screened or treated for iron deficiency empirically (unless there is concern for thalassemia major and potential iron overload). Further testing for hemoglobinopathies (using HPLC or hemoglobin electrophoresis), including sickle cell disease and thalassemia, is recommended when microcytic or normocytic anemia exists in the presence of normal iron studies, and:
- there is a clinical history consistent with these diseases, or
- the patient is at risk because of ethnicity or family history.
Iron deficiency and iron deficiency anemia are further discussed in the Malnutrition section of this website.
Children and youth of certain ethnicities are at increased risk of hereditary anemias, including:
- Sickle cell disease
- Thalassemia
- Glucose-6-phosphate dehydrogenase (G6PD) deficiency
Hemoglobinopathies such as thalassemia and sickle cell disease affect the quantity and quality, respectively, of hemoglobin molecules within red blood cells. Poor diet and weight loss due to parasites or chronic illness can compound the adverse effects of these hereditary anemias.
Health care providers should be aware that hemoglobinopathies are more common among newly arrived women from high-risk regions, and these conditions may lead to serious maternal and neonatal complications. Carrier screening is not standard practice in most parts of the world. The Society of Obstetricians and Gynaecologists of Canada recommends that women in at-risk ethnic populations be screened prior to conception or as early as possible in pregnancy.
Sources
- American Academy of Pediatrics Section on Hematology/Oncology; American Society of Pediatric Hematology/Oncology. Health supervision for children and adolescents with sickle cell disease. Pediatrics. 2024;154(2):e2024066842
- The Hospital for Sick Children. AboutKidsHealth: Anemia. Toronto (ON): The Hospital for Sick Children, 2025.
- Canadian Paediatric Society. Acute complications in children with sickle cell disease: Prevention and management. 2022.
- Leung AKC, Lam JM, Wong AHY, Hon KL, Li X. Iron deficiency anemia: an updated review. Curr Pediatr Rev. 2024;20(3):339–356.
- Aul RB, et al. Reproductive carrier screening for genetic disorders: a Canadian position statement. J Med Genet. 2025.
- American Academy of Pediatrics Section on Hematology/Oncology; American Society of Pediatric Hematology/Oncology. Health supervision for children and adolescents with sickle cell disease. Pediatrics. 2024;154(2):e2024066842.
- Piel FB, Hay SI, Gupta S, Weatherall DJ, Williams TN. Global epidemiology of sickle haemoglobin in neonates: a contemporary geostatistical model-based map and population estimates. Lancet Haematol. 2017;4(4):e150–61.
- Birhane BM, Dawson A, Hayen A. Health of refugee children upon arrival in high-income countries: a scoping review. J Migr Health. 2025;12:100373. doi:10.1016/j.jmh.2025.100373.
- Merkeley H, Bolster L. Thalassemia. CMAJ. 2020;192(41):E1210. doi:10.1503/cmaj.191613.
- GBD 2021 Sickle Cell Disease Collaborators. Global, regional, and national prevalence and mortality burden of sickle cell disease, 2000–2021: a systematic analysis. Lancet Haematol. 2023;10(8):e585–99.
- Public Health Agency of Canada. Canadian Immunization Guide: Evergreen edition. Ottawa (ON): Public Health Agency of Canada, 2026.
- Zhang, X., Wu, J., Peng, Y. et al. Human genetic variations conferring resistance to malaria. J Transl Med. 2025;23:997.
- Public Health Agency of Canada. Canadian recommendations for the prevention and treatment of malaria among international travellers. Ottawa (ON): Public Health Agency of Canada, 2024.
- Canadian Hemoglobinopathy Association. Consensus statement of clinical care of patients with thalassemia in Canada. Toronto (ON): Canadian Hemoglobinopathy Association, 2021.
- Taher AT, Weatherall DJ, Cappellini MD. Thalassaemia. Lancet. 2018;391(10116):155-167.
- GBD 2021 Hemoglobinopathies and Hemolytic Anemias Collaborators, Ojo TT, Amegbor PM, Islam F, Gyamfi J, Mai A, et al. Burden of hemoglobinopathies and hemolytic anemias in the World Health Organization African region, 2000–2021: findings from the Global Burden of Disease 2021 study. PLoS Glob Public Health. 2025;5(9):e0005197. doi:10.1371/journal.pgph.0005197.
Reviewer(s)
Meghna Dua, MD
Last updated: July, 2026
