Alpha-thalassemia
- Overview
- Theory
- Diagnosis
- Management
- Follow up
- Resources
Primary prevention
Prevention is focused on genetic screening and counseling.[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]National Health Service (UK). Screening for sickle cell and thalassaemia. Oct 2022 [internet publication]. https://www.nhs.uk/pregnancy/your-pregnancy-care/screening-for-sickle-cell-and-thalassaemia [40]American College of Obstetricians and Gynecologists. Practice advisory: hemoglobinopathies in pregnancy. Aug 2022 [internet publication]. https://www.acog.org/clinical/clinical-guidance/practice-advisory/articles/2022/08/hemoglobinopathies-in-pregnancy
In the US, all patients who are considering pregnancy or are already pregnant are offered a complete blood count and screening for thalassemias.[41]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.[42]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 Genetic counseling is recommended if both partners are identified as carriers of a gene for abnormal hemoglobins.[42]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
Secondary prevention
Prevention is focused on genetic counseling and prenatal testing.[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]National Health Service (UK). Screening for sickle cell and thalassaemia. Oct 2022 [internet publication]. https://www.nhs.uk/pregnancy/your-pregnancy-care/screening-for-sickle-cell-and-thalassaemia
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