A talassemia beta é uma condição genética autossômica recessiva. A prevenção primária envolve o rastreamento dos indivíduos que desejem iniciar uma família para identificar os portadores, além de aconselhamento genético (com discussão das opções reprodutivas).
No Reino Unido, o rastreamento da talassemia é oferecido a todas as gestantes e aos seus parceiros reprodutivos quando o rastreamento mostra que a mãe é uma portadora genética.[19]NHS. Screening for sickle cell and thalassaemia. Oct 2022 [internet publication].
https://www.nhs.uk/pregnancy/your-pregnancy-care/screening-for-sickle-cell-and-thalassaemia
Os casais identificados como portadores receberão a oferta de aconselhamento genético. As diretrizes do Reino Unido recomendam considerar o rastreamento pré-concepção (ou rastreamento pré-matrimonial, se apropriado) para hemoglobinopatias em mulheres de grupos étnicos de alto risco.[20]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
Se for descoberto que a mulher é portadora, o rastreamento deve ser oferecido ao seu parceiro.[20]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
Nos EUA, o rastreamento para talassemia deve ser oferecido para todas as mulheres que estiverem pensando em engravidar ou já estiverem grávidas.[21]American College of Obstetricians and Gynecologists. Hemoglobinopathies in pregnancy. Aug 2022 [internet publication].
https://www.acog.org/clinical/clinical-guidance/practice-advisory/articles/2022/08/hemoglobinopathies-in-pregnancy
[22]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
[23]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.[22]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
[23]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
O aconselhamento genético é recomendado se ambos forem identificados como portadores de um gene para hemoglobinas anormais.[22]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
[23]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