Dataset Information

First report of the spectrum of ?-globin gene mutations among women of reproductive age in Fujian area-Discrimination of ?-thalassemia, ?-thalassemia, and Iron Deficiency Anemia.

ABSTRACT: BACKGROUND:Low HbA2 level is an underlying of ?-thalassemia, ?-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. ?-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 ?-thalassemia (--SEA /??, -?3.7 /??, and -?4.2 /??) were detected using Gap-PCR, detection of the point mutations in the three nondeletional ?-thalassemia (?CS ?/??,?QS ?/??,?WS ?/??), and the 17 common ?-thalassemia was performed using reverse dot blot hybridization (RDB). RESULTS:We had characterized the ?-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 ?-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 ?-thalassemia. Subjects with ?-thalassemia had statistically higher levels of Hb, MCV, and MCH compared with other two groups, whereas statistically lower levels of RDW were seen in ?-thalassemia group. What's more, statistically higher levels of SF were seen in ?-thalassemia group, compared with IDA groups. CONCLUSION:We reported the spectrum of ?-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 ?-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, ?-thalassemia, and ?-thalassemia.

SUBMITTER: Chen M

PROVIDER: S-EPMC7676206 | biostudies-literature | 2020 Sep

REPOSITORIES: biostudies-literature

ACCESS DATA

Publications

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.

Chen Meihuan M Huang Hailong H Chen Lingji L Lin Na N Zhang Min M Lin Yuan Y Xu Liangpu L

Journal of clinical laboratory analysis 20200909 11

<h4>Background</h4>Low HbA<sub>2</sub> 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.<h4>Methods</h4>Subjects with HbA<sub>2</sub> 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 th ...[more]

PMID: 32901995

Similar Datasets

Project description:BackgroundThalassemia is one of the most common genetic diseases in southern China. Accurate population frequency data regarding the occurrence and distribution of thalassemia are important for designing appropriate prevention strategies for thalassemia. This study aims to reveal the molecular spectrum, ethnic and geographical distribution of thalassemia in the southern area of Hainan Province, China.MethodsA total of 9813 suspected carriers of thalassemia were screened for genetic analysis by using the PCR-reverse dot blot hybridization method targeting three known deletions of α-thalassemias (--SEA, -α3.7, and -α4.2), three nondeletional mutations of α-thalassaemias (αCS, αQS, and αWS) and the 17 most common mutations of β-thalassaemias in the Chinese population.ResultsApproximately 6,924 subjects were genetically diagnosed as thalassemia carriers or patients, including 5812 cases of α-thalassemia (83.9%), 369 cases of β-thalassemia (5.3%), and 743 cases of α-composite β-thalassemia (10.7%). A total of 21 distinct genotypes were identified among the 5,812 α-thalassemia carriers, -α4.2/αα, -α3.7/αα, and -α3.7/-α4.2 were the most common α-thalassemia genotypes. The most frequent β-thalassemia genotype was βCD41-42/βN, with a notable proportion of 69.6%, followed by the β-28M /βN, βIVS-II-654/βN, βCD71-72/βN, βE/βN, and βCD17/βN genotypes. In addition, 37 genotypes were detected among the 743 cases of both α- and β-thalassemia mutations. The α-thalassemia genotypes were most commonly found in the Li people, who accounted for 73.5% of α-thalassemia carriers. The β-thalassemia genotypes were most commonly identified in the Han people, who accounted for 59.4% of β-thalassemia carriers. Among the subjects carrying both α- and β-thalassemia variations, only three ethnic minorities were identified, including the Li, Han, and Miao people, accounting for 82.0, 17.4, and 0.7%, respectively.ConclusionsOur study indicates that there is high genetic heterogeneity, geographical and ethnic differences in thalassemia in populations in the southern area of Hainan Province. These findings will be helpful in guiding genetic counseling and prenatal diagnosis of thalassemia in Hainan Province.

Dataset Information

First report of the spectrum of ?-globin gene mutations among women of reproductive age in Fujian area-Discrimination of ?-thalassemia, ?-thalassemia, and Iron Deficiency Anemia.

Publications

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.

Similar Datasets

OmicsDI is part of the ELIXIR infrastructure

Tweets