Evaluation of intervention strategy of thalassemia for couples of childbearing ages in Centre of Southern China.
J Clin Lab Anal
; 35(10): e23990, 2021 Oct.
Article
em En
| MEDLINE
| ID: mdl-34492731
ABSTRACT
BACKGROUND:
To describe the free intervention strategy of thalassemia for childbearing couples in Guangzhou.METHODS:
Routine hematology examinations were conducted for 137,222 couples. Among them, 37,501 couples who had mean corpuscular volume (MCV) <82 fL or mean corpuscular hemoglobin <27 pg were elected for Hb analysis and the deletions of four common α-thalassemia mutation. Reverse dot blot for common nondeletional α-thalassemia and ß-thalassemia was selectively used. Three thousand twenty-two couples randomly selected were offered all those tests as a control group. Sanger sequencing, multiplex ligation-dependent probe amplification and next-generation sequencing were used for rare thalassemia. High-risk couples were offered prenatal diagnosis at 10-13 weeks' gestation based on informed consent.RESULTS:
The carrier rates of α-, ß-, and αß-thalassemia and 뫧 thalassemia/deletional HPFH were 7.7%, 3.02%, 0.5% and 0.059% respectively. Of them, 1.37% were identified as at-risk couples and 345 couples terminated the pregnancy. No severe α- and ß-thalassemia births were observed. In the control group, two ß- thalassemia carriers and one case with -α3.7 /ααQS were misdiagnosed, but all at-risk couples were found, and we could save 1,523,774 ¥ using our strategy. The cut-off points of 73.46 fL and 23.25 pg would be useful to find -α+ /αT thalassemia.CONCLUSION:
The intervention strategy was cost-effective and offered reference in population thalassemia screening.Palavras-chave
Texto completo:
1
Base de dados:
MEDLINE
Assunto principal:
Diagnóstico Pré-Natal
/
Talassemia
Tipo de estudo:
Diagnostic_studies
/
Prognostic_studies
Limite:
Adult
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Female
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Humans
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Male
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Pregnancy
País como assunto:
Asia
Idioma:
En
Ano de publicação:
2021
Tipo de documento:
Article