Varaico: Literature-Extracted Genetic Variants

Gene:HBB
Variant:p.W38delFs
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HBB

NM_000518.5:p.W38delFs

Associated Papers

Non-Invasive Determination of the Paternal Inheritance in Pregnancies at Risk for β-Thalassaemia by Analyzing Cell-Free Fetal DNA Using Targeted Next-Generation Sequencing.

Byrou S et al.

International Journal of Molecular Sciences, 2025

39859286 (PubMed )
Supplement: ijms-26-00570-s001.zip › Supplementary.pdf

Active spread of β-thalassemia beyond the thalassemia belt: A study on a Russian population.

Shchemeleva E et al.

Clinical Genetics, 2025

Hb Tacoma is difficult to detect and may cause false results with different HbA1c methods.

Landin B et al.

Scandinavian Journal of Clinical and Laboratory Investigation, 2025

Pathogenic variation underlying rare diseases in an Arab population: Implications for screening programs.

Jain R et al.

Genetics in Medicine Open, 2025

40893834 (PubMed )
Supplement: mmc1.xlsx › Supplementary_Table_3

Distinct Distribution of HBB Variants in Two Cohorts of Beta Thalassemia Patients, and a Novel Variant from Turkey.

Kocak Eker H et al.

Molecular Syndromology, 2024

Burden of Mendelian disorders in a large Middle Eastern biobank.

Aamer W et al.

Genome Medicine, 2024

38584274 (PubMed )
Supplement: 13073_2024_1307_MOESM1_ESM.xlsx › Table_S3

Detection of 13 Novel Variants and Investigation of Mutation Distribution by Next Generation Sequencing in Hemoglobinopathies: A Single Center Experience.

Ozalp O et al.

Indian Journal of Hematology & Blood Transfusion : an Official Journal of Indian Society of Hematology and Blood Transfusion, 2024

Global distribution of β-thalassemia mutations: An update.

Rao E et al.

Gene, 2024

Spectrum of Beta-Thalassemia Mutations in Potential Carriers with Microcytic Hypochromic Anemia from Mazandaran and Golestan, Northern Provinces of Iran.

Mousavi SS et al.

Biomed Research International, 2024

The Spectrum of HBB Mutations among 2315 Beta Thalassemia Patients of a Reference Clinic in Tehran-Iran.

Bazazzadegan N et al.

Hemoglobin, 2023

Rare and New Mutations of B-Globin in Azari Population of Iran, a Considerable Diversity.

Abbasali FH et al.

Balkan Journal of Medical Genetics : Bjmg, 2023

Evaluation of in silico predictors on short nucleotide variants in HBA1, HBA2, and HBB associated with haemoglobinopathies.

Tamana S et al.

Elife, 2022

36453528 (PubMed )
Supplement: elife-79713-supp2.xlsx › Input-Full_dataset

First Report of β-Thalassemia Intermedia in a Patient Compound Heterozygous for -92 (C>T) and Codons 36/37 (-T) Mutations.

Aliyeva G et al.

Hemoglobin, 2021

The Spectrum of β-Thalassemia Mutations in the Population Migration in Lebanon: A 6-Year Retrospective Study.

Farra C et al.

Hemoglobin, 2021

Genetic ancestry analysis on >93,000 individuals undergoing expanded carrier screening reveals limitations of ethnicity-based medical guidelines.

Kaseniit KE et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2020

32595206 (PubMed )
Supplement: 41436_2020_869_MOESM2_ESM.xlsx › HBB

β-Globin Gene Mutations in Pediatric Patients with β-Thalassemia in the Region of Çukurova, Turkey.

Guzelgul F et al.

Hemoglobin, 2020

Distribution of HBB Gene Mutations in the Kurdish Population of Ilam Province, West Iran.

Moradi K et al.

Hemoglobin, 2020

Molecular and geographical heterogeneity of hemoglobinopathy mutations in Azerbaijanian populations.

Aliyeva G et al.

Annals of Human Genetics, 2020

Detection of Paternal IVS-II-1 (G>A) (HBB: c.315+1G>A) Mutation in Cell-Free Fetal DNA Using COLD-PCR assay.

Mortazavipour MM et al.

Hemoglobin, 2020

Hb S (HBB: c.20A>T) and α- and β-Thalassemia Coinheritance in Iranian Patients.

Azarkeivan A et al.

Hemoglobin, 2020

Identification of seven novel variants in the β-globin gene in transfusion-dependent and normal patients.

Aldakeel SA et al.

Archives of Medical Science : Ams, 2020

Molecular Characterization and Disease-Related Morbidities of β-Thalassemia Patients from the Northeastern Part of Iraq.

Amin S et al.

International Journal of General Medicine, 2020

Gene expression in blood from an individual with β-thalassemia: An RNA sequence analysis.

Taghavifar F et al.

Molecular Genetics & Genomic Medicine, 2019

Reliability of the current newborn screening action value for beta thalassaemia disease detection in England: A prospective study.

Daniel Y et al.

Journal of Medical Screening, 2019

The Spectrum of β-Thalassemia Mutations in Siirt Province, Southeastern Turkey.

Yılmaz S

Hemoglobin, 2019

The phenotypic and molecular diversity of hemoglobinopathies in India: A review of 15 years at a referral center.

Nadkarni AH et al.

International Journal of Laboratory Hematology, 2019

The Sub-Phenotypes of Sickle Cell Disease in Kuwait.

Adekile AD et al.

Hemoglobin, 2019

The Spectrum of β-Thalassemia Mutations in Hamadan Province, West Iran.

Alibakhshi R et al.

Hemoglobin, 2019

Geographical distribution of β-globin gene mutations in Syria.

Murad H et al.

Hematology (amsterdam, Netherlands), 2018

Codon 14 (+T) (HBB: c.44_45insT): a Rare β-Thalassemia Mutation Reported Only in Azerbaijan.

Aliyeva G et al.

Hemoglobin, 2018

Frequency of α-Globin Gene Triplications and Coinheritance with β-Globin Gene Mutations in the Iranian Population.

Abedini SS et al.

Hemoglobin, 2018

The Frequency of HBB Mutations Among β-Thalassemia Patients in Hamadan Province, Iran.

Jalilian M et al.

Hemoglobin, 2017

IVS-II-648/649 (-T) (HBB: c.316-202del) Triggers a Novel β-Thalassemia Phenotype.

Azimi A et al.

Hemoglobin, 2017

Expanding preconception carrier screening for the Jewish population using high throughput microfluidics technology and next generation sequencing.

Gal M et al.

Bmc Medical Genomics, 2016

27175728 (PubMed )
Supplement: 12920_2016_184_MOESM1_ESM.xls › S1

A Large Cohort Study of Genotype and Phenotype Correlations of Beta- Thalassemia in Iranian Population.

Maryami F et al.

International Journal of Hematology-oncology and Stem Cell Research, 2015

Novel Βeta (β)-Thalassemia Mutation in Turkish Children.

Ulasli M et al.

Indian Journal of Hematology & Blood Transfusion : an Official Journal of Indian Society of Hematology and Blood Transfusion, 2015

Broader spectrum of β-thalassemia mutations in Oman: regional distribution and comparison with neighboring countries.

Hassan SM et al.

Hemoglobin, 2015

Molecular Basis of β-Thalassemia in the Population of the Aegean Region of Turkey: Identification of A Novel Deletion Mutation.

Ozkinay F et al.

Hemoglobin, 2015

Interaction of an α-Globin Gene Triplication with β-Globin Gene Mutations in Iranian Patients with β-Thalassemia Intermedia.

Farashi S et al.

Hemoglobin, 2015

Prenatal and newborn screening for hemoglobinopathies.

Hoppe CC

International Journal of Laboratory Hematology, 2013

The spectrum of β-thalassemia mutations in Baghdad, Central Iraq.

Al-Allawi NA et al.

Hemoglobin, 2013

The spectrum of β-thalassemia mutations in Kermanshah Province in West Iran and its association with hematological parameters.

Mehrabi M et al.

Hemoglobin, 2013

Comprehensive and efficient HBB mutation analysis for detection of beta-hemoglobinopathies in a pan-ethnic population.

Chan OT et al.

American Journal of Clinical Pathology, 2010

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."