Comparison of cord blood hematological parameters among normal, α-thalassemia, and β-thalassemia fetuses between 17 and 38 weeks of gestation

Zhan, Wenli; Guo, Hao; Hu, Siqi; Wang, Jicheng; Qin, Danqing; Liang, Jinghong; Du, Li; Luo, Mingyong

doi:10.1038/s41598-021-82297-y

Cited by 6 publications

(12 citation statements)

References 20 publications

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“… 18 Hematological parameters have been used for years to provide information about the health status of the fetus. 3 The cord blood hematological data provide data on the health status of the fetus in the related period of pregnancy. These indices could be changed according to the mutations identified in the fetus.…”

Section: Discussionmentioning

confidence: 99%

“…Alpha (α-) and beta (β-) thalassemias are the two major types that are caused by deficient synthesis of α- and β-globin chains . 3 , 4 , 5 Structural Hb variants are developed by single amino acid substitutions in the α- or β-globin chains. 6 One of the most common Hb variants is sickle cell anemia (SCA), and in the South part of Turkey, the prevalence of sickle-cell Hb (HbS) is 10% in the Çukurova region.…”

Section: Introductionmentioning

confidence: 99%

“…Despite wide knowledge and experience in the prenatal diagnosis of thalassemias today, there is not much knowledge on the distribution of erythrocyte indices of fetuses, especially in different α- and β-thalassemia subgroups and mixed thalassemias with SCA. 3 , 17 , 18 Thus, this study aimed to investigate the differences in hematological parameters in fetuses with several thalassemia genotypes in mid-pregnancy.…”

Section: Introductionmentioning

confidence: 99%

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Cord Blood Hematological Parameters of Fetuses Detected Different Thalassemia Genotypes in the Second Trimester of Pregnancy

Yenilmez¹,

Tuli²

2023

Balkan Med J

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Background: Hemoglobinopathies are the most common inherited diseases in humans resulting from impaired globin chain synthesis of hemoglobin. The progression of thalassemia rates is prevented with prenatal screening methods. Aims: To evaluate the hematological parameters of α- and β-thalassemia and normal fetuses aged 17-25 weeks of gestation. Study Design: A cross-sectional study. Methods: Pregnant women who underwent cordocentesis in the second trimester because of the risk of having a baby with thalassemia were included in the study. Hematological indices and molecular DNA methods were analyzed from the cord blood samples of 129 women who were 17-25 weeks into pregnancy. The HPLC method was used for Hb fraction analysis. Amplification refractory mutation system, restriction enzyme analysis, multiplex polymerase chain reaction, and sequencing methods were used for the molecular analysis. Maternal contamination was eliminated by the short tandem repeat method. Results: In total, 112 of the fetuses carry α- and β-thalassemia heterozygous or homozygous (α: 37, β: 58, mixed: 17) and 17 fetuses had a normal genotype for thalassemia. Significant differences in adult hemoglobin (HbA), fetal hemoglobin (HbF), Hb Barts, MCV, MCH, and RDW were detected in three groups compared with the normal group (p < 0.001, except for RBC, Hb, HCT, and MCHC). Differences in HbF, Hb Barts, MCV, MCH, and RDW were observed in the α-thalassemia groups compared with the normal group (p < 0.001). Among the five β-thalassemia subgroups, only HbA and RDW were different from the normal group (p < 0.001). Conclusion: This study could be a good reference for future studies and prenatal diagnostic applications in emphasizing the importance of changes in the blood parameters of fetuses before molecular genotyping. These hematological data give valuable information to clinicians about the fetus to enlighten families in making appropriate decisions during prenatal diagnosis.

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Section: Discussionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

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Cord Blood Hematological Parameters of Fetuses Detected Different Thalassemia Genotypes in the Second Trimester of Pregnancy

Yenilmez¹,

Tuli²

2023

Balkan Med J

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“…It has been shown that hematological parameters varied with gestational age. An increase in gestational age is associated with increased Hb and Hct and decreased MCV, MCH, and MCHC values [ 27 – 29 ]. In addition, a co-inheritance of the Hb E, which is a β-globin chain variant, in patient 2 may help in the improvement of the hematological phenotype of the patient.…”

Section: Discussionmentioning

confidence: 99%

Diagnostic value of fetal hemoglobin Bart’s for evaluation of fetal α-thalassemia syndromes: application to prenatal characterization of fetal anemia caused by undiagnosed α-hemoglobinopathy

Singha

Yamsri

Chaibunruang

et al. 2022

Orphanet J Rare Dis

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Background To evaluate whether the quantification of fetal hemoglobin (Hb) Bart’s is useful for differentiation of α-thalassemia syndromes in the fetus and to characterize the fetal anemia associated with fetal α-hemoglobinopathy. Methods A total of 332 fetal blood specimens collected by cordocentesis were analyzed using capillary electrophoresis and the amount of Hb Bart’s was recorded. The result was evaluated against thalassemia genotypes determined based on Hb and DNA analyses. Prenatal Hb and DNA characterization of the fetal anemia observed in two families was done. Results Among 332 fetuses investigated, Hb and DNA analyses identified 152 fetuses with normal genotypes. The remaining 180 fetuses carried α-thalassemia with several genotypes. Variable amounts of Hb Bart’s were identified in all fetuses with α-thalassemia, which could be used for simple differentiation of fetal α-thalassemia genotypes. These included α+- and α0-thalassemia traits, homozygous α+-thalassemia and Hb Constant Spring (CS), Hb H disease, Hb H-CS and Hb H-Quong Sze diseases, homozygous α0-thalassemia causing the Hb Bart’s hydrops fetalis and a remain uncharacterized α-thalassemia defect. The previously undescribed interactions of Hb Queens Park and Hb Amsterdam A1 with Hb E were detected in two fetuses with Hb Bart’s of 0.5%. The Hb Queens Park-AEBart’s disease was also noted in one pregnant woman. Prenatal analysis of the fetuses with severe fetal anemia and cardiomegaly with Hb Bart’s of 9.0% and 13.6% revealed unexpectedly the homozygous Hb CS and a compound heterozygosity of Hb CS/Hb Pakse’ with Hb E heterozygote, respectively. Conclusions The usefulness of detecting and differentiation of fetal α-thalassemia syndromes by quantifying of Hb Bart’s was demonstrated. Apart from the fatal condition of Hb Bart’s hydrops fetalis associated with homozygous α0-thalassemia, homozygous Hb CS and a compound Hb CS/Hb Pakse’ could result in severe fetal anemia and fetal complications, prenatal diagnosis is highly recommended. The simple Hb Bart’s quantification of fetal blood should prove helpful in this matter.

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“…β-thalassemia is a blood disorder that reduces the production of hemoglobin. Although studies concerned have suggested that several cord blood serum markers have potential diagnostic value, they have not been worked in application [58]. The relatively mature enough technique is the GthapScreen HBB kit, which involves several STR markers.…”

Section: β-Thalassemiamentioning

confidence: 99%

Prenatal Diagnosis: The Main Advances in the Application of Identification of Biomarkers Based on Multi-Omics

Wang¹,

Xu²,

Wang³

et al. 2022

Ectopic Pregnancy and Prenatal Diagnosis

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Prenatal diagnosis is to make the diagnosis of fetal structural abnormalities, genetic diseases, and pregnancy-related diseases before birth thus could offer evidence for intrauterine treatment or selectively termination of pregnancy. Up to now, researchers have applied multi-omics, including genomics, transcriptomics, and proteomics, in the discovery of prenatal diagnostic biomarkers. They have found some candidate biomarkers for aneuploids, preeclampsia, intrauterine growth retardation, and congenital structural abnormalities. With the momentous progress of biomarkers’ identification based on multi-omics for prenatal diagnosis, noninvasive prenatal testing (NIPT) has experienced tremendous progress and is revolutionizing prenatal screening and diagnosis over the past few decades. Extensive studies have also demonstrated the value of biomarkers. In particular, cell-free DNA (cfDNA), allows for a definitive diagnosis in early pregnancy for fetal diseases, including Down syndrome and other common aneuploidies. The cfDNA can be extracted from maternal plasma, posing no risk of miscarriage compared to the traditional invasive diagnosis directly analyzing fetal cells from amniocentesis or chorionic villus sampling. In this review, we would discuss the main advances, strengths, and limitations in the application of biomarkers for prenatal diagnosis along with the analysis of several representative fetal diseases.

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Comparison of cord blood hematological parameters among normal, α-thalassemia, and β-thalassemia fetuses between 17 and 38 weeks of gestation

Cited by 6 publications

References 20 publications

Cord Blood Hematological Parameters of Fetuses Detected Different Thalassemia Genotypes in the Second Trimester of Pregnancy

Cord Blood Hematological Parameters of Fetuses Detected Different Thalassemia Genotypes in the Second Trimester of Pregnancy

Diagnostic value of fetal hemoglobin Bart’s for evaluation of fetal α-thalassemia syndromes: application to prenatal characterization of fetal anemia caused by undiagnosed α-hemoglobinopathy

Prenatal Diagnosis: The Main Advances in the Application of Identification of Biomarkers Based on Multi-Omics

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