A prevenção se concentra no rastreamento e no aconselhamento genético.[34]Mensah C, Sheth S. Optimal strategies for carrier screening and prenatal diagnosis of alpha-and beta-thalassemia. Hematology Am Soc Hematol Educ Program. 2021 Dec 10;2021(1):607-13.
https://ashpublications.org/hematology/article/2021/1/607/482969/Optimal-strategies-for-carrier-screening-and
http://www.ncbi.nlm.nih.gov/pubmed/34889395?tool=bestpractice.com
[35]Bender MA, Yusuf C, Davis T, et al. Newborn screening practices and alpha-thalassemia detection - United States, 2016. MMWR Morb Mortal Wkly Rep. 2020 Sep 11;69(36):1269-72.
https://www.cdc.gov/mmwr/volumes/69/wr/mm6936a7.htm
http://www.ncbi.nlm.nih.gov/pubmed/32915167?tool=bestpractice.com
[36]ACOG Committee on Obstetrics. ACOG practice bulletin no. 78: hemoglobinopathies in pregnancy. Obstet Gynecol. 2007 Jan;109(1):229-37.
http://www.ncbi.nlm.nih.gov/pubmed/17197616?tool=bestpractice.com
[37]MacKenzie TC, Amid A, Angastiniotis M, et al. Consensus statement for the perinatal management of patients with alpha thalassemia major. Blood Adv. 2021 Dec 28;5(24):5636-9.
https://ashpublications.org/bloodadvances/article/5/24/5636/477884/Consensus-statement-for-the-perinatal-management
http://www.ncbi.nlm.nih.gov/pubmed/34749399?tool=bestpractice.com
[38]Thalassemia.com. Genetics of thalassemia: genetic counseling. 2023 [internet publication].
https://thalassemia.com/genetics-counseling.aspx#gsc.tab=0
[39]American College of Obstetricians and Gynecologists. Hemoglobinopathies in pregnancy: practice advisory. Aug 2022 [internet publication].
https://www.acog.org/clinical/clinical-guidance/practice-advisory/articles/2022/08/hemoglobinopathies-in-pregnancy
[40]GOV.UK. Antenatal screening. Jul 2025 [internet publication].
https://www.gov.uk/government/publications/handbook-for-sickle-cell-and-thalassaemia-screening/antenatal-screening
As abordagens para o rastreamento variam mundialmente.[41]Halim-Fikri BH, Lederer CW, Baig AA, et al. Global globin network consensus paper: classification and stratified roadmaps for improved thalassaemia care and prevention in 32 countries. J Pers Med. 2022 Mar 31;12(4):552.
https://www.mdpi.com/2075-4426/12/4/552
http://www.ncbi.nlm.nih.gov/pubmed/35455667?tool=bestpractice.com
Nos EUA, para todas as pacientes que estiverem pensando em engravidar ou já estiverem grávidas são oferecidos um hemograma completo e rastreamento para talassemias.[42]American College of Obstetricians and Gynecologists. Committee opinion no. 690: carrier screening in the age of genomic medicine. Mar 2017 [internet publication].
https://www.acog.org/clinical/clinical-guidance/committee-opinion/articles/2017/03/carrier-screening-in-the-age-of-genomic-medicine
Se for descoberto que a mulher é portadora, o rastreamento deve ser oferecido ao seu parceiro reprodutivo.[43]American College of Obstetricians and Gynecologists. Committee opinion no. 691: carrier screening for genetic conditions. Mar 2017 [internet publication].
https://www.acog.org/clinical/clinical-guidance/committee-opinion/articles/2017/03/carrier-screening-for-genetic-conditions
Medidas preventivas recomendadas no Reino Unido
Diretrizes do Reino Unido recomendam a consideração de testes pré-concepção (ou testes pré-matrimoniais, se apropriados) para hemoglobinopatias em mulheres em idade fértil consideradas de alto risco devido à origem familiar.[44]Bain BJ, Daniel Y, Henthorn J, et al. Significant haemoglobinopathies: a guideline for screening and diagnosis: a British Society for Haematology guideline. Br J Haematol. 2023 Jun;201(6):1047-65.
https://onlinelibrary.wiley.com/doi/10.1111/bjh.18794
http://www.ncbi.nlm.nih.gov/pubmed/37271570?tool=bestpractice.com
O rastreamento para talassemia é recomendado para todas as mulheres no Reino Unido no início da gestação (antes de 10 semanas de gestação). O rastreamento para talassemia alfa busca identificar gestações nas quais ambos os pais são portadores de talassemia alfa(0), e o bebê tem risco de talassemia alfa major. Caso o rastreamento pré-natal sugira que a mãe seja portadora de talassemia alfa(0), deve-se oferecer o teste ao pai biológico, caso ele seja considerado de alto risco (com base na avaliação da origem familiar). O exame de DNA é necessário para confirmar o estado da talassemia alfa.[40]GOV.UK. Antenatal screening. Jul 2025 [internet publication].
https://www.gov.uk/government/publications/handbook-for-sickle-cell-and-thalassaemia-screening/antenatal-screening
O aconselhamento genético é recomendado se ambos os parceiros forem identificados como sendo portadores de um gene para hemoglobinas anormais.[40]GOV.UK. Antenatal screening. Jul 2025 [internet publication].
https://www.gov.uk/government/publications/handbook-for-sickle-cell-and-thalassaemia-screening/antenatal-screening
[43]American College of Obstetricians and Gynecologists. Committee opinion no. 691: carrier screening for genetic conditions. Mar 2017 [internet publication].
https://www.acog.org/clinical/clinical-guidance/committee-opinion/articles/2017/03/carrier-screening-for-genetic-conditions
O teste genético pré-implantação para evitar uma gestação com talassemia alfa maior é uma opção para os futuros pais que estiverem considerando a fertilização in vitro.[37]MacKenzie TC, Amid A, Angastiniotis M, et al. Consensus statement for the perinatal management of patients with alpha thalassemia major. Blood Adv. 2021 Dec 28;5(24):5636-9.
https://ashpublications.org/bloodadvances/article/5/24/5636/477884/Consensus-statement-for-the-perinatal-management
http://www.ncbi.nlm.nih.gov/pubmed/34749399?tool=bestpractice.com
[45]GOV.UK. Counselling and referral for prenatal diagnosis (PND). Jul 2025 [internet publication].
https://www.gov.uk/government/publications/handbook-for-sickle-cell-and-thalassaemia-screening/prenatal-diagnosis-guidelines