Aim This study was carried out to detect beta (β) thalassemia heterozygous state in antenatal women and to create a validated flag in the software utilizing the screening indices to filter the samples to be subjected to high-performance liquid chromatography (HPLC) and to define a model for the prevention of thalassemia. Methods This cross-sectional study was carried out for a period of two years on women attending the antenatal clinic. Complete blood count (CBC) and peripheral smear were done during their first visit. Serum iron and total iron-binding capacity were done for women who had microcytic hypochromic anemia. The samples of women without iron deficiency were processed by HPLC for hemoglobinopathies. The spouses of women who were found to have beta thalassemia trait were counseled to undergo screening, and those who consented were tested. Results A total of 183 antenatal women were screened for hemoglobinopathies. Βeta thalassemia trait was detected in 23.5% of them. Among the 16 red blood cell (RBC) indices analyzed, Sehgal index and Mentzer index, both with sensitivities of 97.67%, were found to be suitable. Alert flag incorporated in the software of the analyzer to detect these indices helps not to miss samples to carry out HPLC. The spouses of women with β thalassemia trait who underwent HPLC testing were 55.81%. A model screening program was designed. Conclusion Antenatal testing by HPLC should be done on all mothers having microcytic hypochromic anemia without iron deficiency. Spouse testing of the woman who was carriers denotes the success of the antenatal screening program.
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http://dx.doi.org/10.7759/cureus.22209 | DOI Listing |
Adv Sci (Weinh)
December 2024
Innovation Center for Diagnostics and Treatment of Thalassemia, Nanfang Hospital, Southern Medical University, Guangzhou, Guangdong, 510515, China.
Despite the well-documented mutation spectra of β-thalassemia, the genetic variants and haplotypes of globin gene clusters modulating its clinical heterogeneity remain incompletely illustrated. Here, a targeted long-read sequencing (T-LRS) is demonstrated to capture 20 genes/loci in 1,020 β-thalassemia patients. This panel permits not only identification of thalassemia mutations at 100% of sensitivity and specificity, but also detection of rare structural variants (SVs) and single nucleotide variants (SNVs) in modifier genes/loci.
View Article and Find Full Text PDFStem Cell Res Ther
December 2024
Centre for Stem Cell Research (CSCR), A Unit of InStem Bengaluru, Christian Medical College Campus, Vellore, Tamil Nadu, 632002, India.
Background: Sickle cell disease (SCD) and β-thalassemia patients with elevated gamma globin (HBG1/G2) levels exhibit mild or no symptoms. To recapitulate this natural phenomenon, the most coveted gene therapy approach is to edit the regulatory sequences of HBG1/G2 to reactivate them. By editing more than one regulatory sequence in the HBG promoter, the production of fetal hemoglobin (HbF) can be significantly increased.
View Article and Find Full Text PDFIndian J Orthop
January 2025
Dayanand Medical College and Hospital, Tagore Nagar, civil lines, Ludhiana, Punjab 141001 India.
Purpose: There is paucity of guidelines with inadequate data available about the extent and prevention of bone and joint disease in beta-thalassemic patients in Indian population. This study aims to determine bone and joint involvement in beta-thalassemic patients. It evaluates serum biochemical parameters of bone formation and resorption and correlates with the symptomatology in these patients.
View Article and Find Full Text PDFInt J Lab Hematol
December 2024
Department of Hematology, Sanjay Gandhi Post Graduate Institute of Medical Sciences, Lucknow, India.
Background: δβ-thalassemia/HPFH is an uncommon hemoglobinopathy characterized by decreased or the total absence of production of δ- and β-globin and increased HbF levels. Both these disorders have variable genotype and phenotype, but significant overlap in the clinical and laboratory findings. Given the lack of literature in this regard, the study aimed to estimate the prevalence of the disease and evaluate its clinical, hematological, and molecular profile in India.
View Article and Find Full Text PDFCytotherapy
December 2024
Molecular and Clinical Hematology Branch, National Heart, Lung, and Blood Institute, Bethesda, Maryland, USA.
Sickle cell disease (SCD) is the most common inherited blood disorder worldwide, impacting millions and imposing severe healthcare challenges, particularly in resource-limited regions. Current treatments have variable efficacy and require lifelong adherence. Allogeneic Hematopoietic Stem Cell Transplantation can be curative but comes with significant side effects and limited donor availability limits its widespread applicability.
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