Varaico: Literature-Extracted Genetic Variants

Gene:HBA1
Variant:p.K100_L101Splc
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HBA1

NM_000558.5:p.K100_L101Splc

Associated Papers

Relevance of Next-Generation Sequencing in the Diagnosis of Thalassemia and Hemoglobinopathies: The Experience of Four Italian Diagnostic Hubs.

Selvatici R et al.

Genes, 2024

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

HBB mutations and HbA2 level: Escaping the carrier screening programs.

Sharifi A et al.

Clinical Case Reports, 2021

Genotype-phenotype correlation of HbH disease in northern Iraq.

Shamoon RP et al.

Bmc Medical Genetics, 2020

Hemoglobinopathies in Iran: An Updated Review.

Nasiri A et al.

International Journal of Hematology-oncology and Stem Cell Research, 2020

Severe α-Thalassemia Due to Compound Heterozygosity for Hb Adana (α59 Gly>Asp) (HBA1: c.179G > A) and Codon 127 (A > T) (HBA2: c.382A > T) in an Iranian Family.

Azimi A et al.

Hemoglobin, 2020

Genotype-phenotype association analysis identifies the role of α globin genes in modulating disease severity of β thalassaemia intermedia in Sri Lanka.

Perera S et al.

Scientific Reports, 2019

Molecular characterization of β-thalassemia intermedia in the West Bank, Palestine.

Faraon R et al.

Bmc Hematology, 2019

Prevalence and Genetic Analysis of α- and β-Thalassemia and Sickle Cell Anemia in Southwest Iran.

Nezhad FH et al.

Journal of Epidemiology and Global Health, 2018

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

Abedini SS et al.

Hemoglobin, 2018

β-Thalassemia Distribution in the Old World: an Ancient Disease Seen from a Historical Standpoint.

De Sanctis V et al.

Mediterranean Journal of Hematology and Infectious Diseases, 2017

Molecular Characterization of β-Thalassemia in the Czech and Slovak Populations: Mediterranean, Asian and Unique Mutations.

Divoka M et al.

Hemoglobin, 2016

Haemoglobin Variant Screening in Jamaica: Meeting Student's Request.

Mason K et al.

British Journal of Haematology, 2016

Identification of Mutations Causing Aberrant Termination and Deficient Splice Donor Site on the HBA1 Gene.

Farashi S et al.

Hemoglobin, 2016

Molecular Basis of β-Thalassemia Intermedia in Erbil Province of Iraqi Kurdistan.

Shamoon RP et al.

Hemoglobin, 2015

Sistani population: a different spectrum of β-thalassemia mutations from other ethnic groups of Iran.

Miri-Moghaddam E et al.

Hemoglobin, 2013

Beta-Thalassemia in Iran: new insight into the role of genetic admixture and migration.

Rezaee AR et al.

Thescientificworldjournal, 2012

Molecular characterization of β-thalassemia intermedia: a report from Iran.

Arab A et al.

Molecular Biology Reports, 2011

Hb S-β-thalassemia: molecular, hematological and clinical comparisons.

Serjeant GR et al.

Hemoglobin, 2011

Spectrum of β-thalassemia mutations in the eastern province of Saudi Arabia.

Al-Sultan A et al.

Hemoglobin, 2011

Alpha-thalassaemia.

Harteveld CL et al.

Orphanet Journal of Rare Diseases, 2010

Molecular heterogeneity of beta-thalassemia in Algeria: how to face up to a major health problem.

Boudrahem-Addour N et al.

Hemoglobin, 2009

Molecular basis of thalassemia intermedia in Iran.

Akbari MT et al.

Hemoglobin, 2008

Rapid detection of beta-Thalassemia alleles in Egypt using naturally or amplified created restriction sites and direct sequencing: a step in disease control.

Hussein G et al.

Hemoglobin, 2007

Diagnosis of the haemoglobinopathies.

Trent RJ

The Clinical Biochemist. Reviews, 2006

Response to hydroxyurea treatment in Iranian transfusion-dependent beta-thalassemia patients.

Yavarian M et al.

Haematologica, 2004

The beta-thalassemia mutation/haplotype distribution in the moroccan population.

Lemsaddek W et al.

Hemoglobin, 2004

Beta-thalassemia intermedia from southern Iran: IVS-II-1 (G-->A) is the prevalent thalassemia intermedia allele.

Karimi M et al.

Hemoglobin, 2002

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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."