First report of the spectrum of δ-globin gene mutations among women of reproductive age in Fujian area-Discrimination of δ-thalassemia, α-thalassemia, and Iron Deficiency Anemia.
J Clin Lab Anal
; 34(11): e23479, 2020 Nov.
Article
em En
| MEDLINE
| ID: mdl-32901995
ABSTRACT
BACKGROUND:
Low HbA2 level is an underlying of δ-thalassemia, α-thalassemia, and IDA. Interactions of these disorders can generate a wide spectrum of phenotype, which will pose diagnostic conundrum for clinical assessment, carrier screening, and genetic counseling.METHODS:
Subjects with HbA2 levels below 2.0% with normal or reduced hematological parameters were recruited for further investigation. δ-globin gene mutations were identified by DNA sequencing of the HBD gene. Serum ferritin (SF) concentration was determined by the chemiluminescent microparticle immunoassay. The three common deletional α-thalassemia (--SEA /αα, -α3.7 /αα, and -α4.2 /αα) were detected using Gap-PCR, detection of the point mutations in the three nondeletional α-thalassemia (αCS α/αα,αQS α/αα,αWS α/αα), and the 17 common ß-thalassemia was performed using reverse dot blot hybridization (RDB).RESULTS:
We had characterized the δ-globin gene mutations in 20 cases, revealing a frequency of 0.4% in the women of reproductive age (20/4 792). Two previously known mutations-77 T > C and -30 T > C and 3 novel δ-globin gene defects -44G > A,CD87C > T, and CD134T > A were found. In the selected cases, we also found 85 cases confirmed with (51.2%,85/166) IDA and 39 cases (23.5%,39/166) with common α-thalassemia. Subjects with δ-thalassemia had statistically higher levels of Hb, MCV, and MCH compared with other two groups, whereas statistically lower levels of RDW were seen in δ-thalassemia group. What's more, statistically higher levels of SF were seen in δ-thalassemia group, compared with IDA groups.CONCLUSION:
We reported the spectrum of δ-thalassemia mutations for the first time with the frequency of 0.4% among women of reproductive age in Fujian area and found that -77T > C mutation was the most common mutation, followed by -30T > C mutation. What's more, 3 novel δ-globin gene defects -44G > A,CD87C > T and CD134T > A were found. A thorough analysis of the hematological, electrophoretic characterization, and the level of SF was needed to suspect and further investigate the existence of IDA, α-thalassemia, and δ-thalassemia.Palavras-chave
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Talassemia beta
/
Anemia Ferropriva
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Talassemia delta
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Globinas delta
/
Mutação
Tipo de estudo:
Observational_studies
/
Prevalence_studies
/
Prognostic_studies
/
Risk_factors_studies
Limite:
Adolescent
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Adult
/
Female
/
Humans
/
Middle aged
País/Região como assunto:
Asia
Idioma:
En
Revista:
J Clin Lab Anal
Assunto da revista:
TECNICAS E PROCEDIMENTOS DE LABORATORIO
Ano de publicação:
2020
Tipo de documento:
Article
País de afiliação:
China