Prevention is focused on genetic screening and counselling.[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
Approaches to screening vary worldwide.[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
In the US, all patients who are considering pregnancy or are already pregnant are offered a complete blood count and screening for thalassemias.[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
If a woman is found to be a carrier, her reproductive partner should be offered 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
Preventive measures recommended in the UK
UK guidelines recommend considering preconception testing (or premarital testing, if appropriate) for haemoglobinopathies in individuals of childbearing age who are considered high risk due to family origin.[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
Thalassaemia screening is recommended for all women in the UK during early pregnancy (before 10 weeks’ gestation). Screening for alpha-thalassaemia aims to identify pregnancies in which both parents are alpha(0) thalassaemia carriers and the baby is at risk of alpha-thalassaemia major. If antenatal screening suggests that the mother is an alpha(0) thalassaemia carrier, testing is offered to the biological father if he is considered high risk (based on assessment of family origin). DNA testing is required to confirm alpha-thalassaemia status.[40]GOV.UK. Antenatal screening. Jul 2025 [internet publication].
https://www.gov.uk/government/publications/handbook-for-sickle-cell-and-thalassaemia-screening/antenatal-screening
Genetic counselling is recommended if both partners are identified as carriers of a gene for abnormal haemoglobins.[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
Pre-implantation genetic testing to prevent a pregnancy with alpha-thalassaemia major is an option for prospective parents considering in vitro fertilisation.[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