OOIR: Observatory of International Research

Papers

(The TQCC of Hemoglobin is 1. The table below lists those papers that are above that threshold based on CrossRef citation counts [max. 250 papers]. The publications cover those that have been published in the past four years, i.e., from 2022-06-01 to 2026-06-01.)

Article	Citations
Long Non-Coding RNA H19 Leads to Upregulation of γ-Globin Gene Expression during Erythroid Differentiation	23
Clinical Exome Sequencing Reveals Novel Mutations in SPTB Gene Associated with Hereditary Spherocytosis in Patients with Suspected Congenital Hemolytic Anemia	20
A Novel 5 kb Deletion in theβ-Globin Gene Cluster Identified in a Chinese Patient	15
Identification of a New δ chain hemoglobin Variant, Hb A2-Malay [δ46(CD5)Gly > Arg, HBD : C.139G > C;316-443A > G]	14
Noninvasive Prenatal Diagnosis of SEA-Thalassemia by Combining 1000 Genomes Database and Relative Haplotype Dosage	10
Morbidity and Mortality Associated with COVID-19 and Acute Chest Syndrome in Sickle Cell Disease Patients	10
ATG-Thymoglobulin Versus ATG-Fresenius for Conditioning in Thalassemia Patients Who Underwent Allogenic Stem Cell Transplantation from Matched-Sibling Donor: A Tertiary Cancer Care Center Short-Term E	9
A Cross-Sectional Study on Pain and Quality of Life of Adult Patients with Transfusion-Dependent Thalassemia in a Tertiary Hospital In Malaysia	8
Splice Acceptor Mutation [ HBB :c.93-2A > T] in a Patient with Hb S/β ⁰ -Thalassemia	7
The First Iranian Case of Unstable Hemoglobin Santa Ana	7
Identification of Sickle Cell Disease and Its Associated Other Structural Variants of Hemoglobin Using High Performance Liquid Chromatography and Their Clinical Profiling	6
A novel α Globin Gene Cluster Duplication, αααα³⁸⁰ Heterozygous β⁰-Thal Variant, Leading to a Blood Transfusion-Dependent Phenotype	6
Inflammatory Biomarkers in Sickle Cell Disease: Understanding Their Role in Predicting the Disease-Related Complications	6
Coexisting β-Thalassemia Trait, Gilbert Syndrome and Alpha-Globin Gene Triplication in a Child with Non-Transfusion Dependent Thalassemia Phenotype	6
Gene Therapies for Hemoglobinopathies: Promises and Challenges	5
Submitting Novel Globin Gene Variants to Hemoglobin	5
Coexistence of Mycoplasma Pneumonia and Pulmonary Embolism as a Cause of Acute Chest Syndrome in a Child with Sickle Cell Disease	5
Two Novel δ-Globin Chain Variants Identified in the Chinese Population	4
Effect of Hydroxyurea Therapy on Growth Parameters in Older Children (6-15 Year-Old) with Sickle Cell Disease: Low Dose Versus High Dose	4
Evaluation of the Function of a Rare Variant in the 3'-Untranslated Region of the β-Globin Gene	4
Identification of a β-Globin Gene Mutation with the Genotype β-28(A > G), IVS-I-5(G > A)/βCD 71/72(+A) Using Third-Generation Sequencing	4
Molecular Identification and the Hematological Findings of Four Novel Variants in Globin Genes in Jiangxi Province of Southern China	4
Strengthening Health System and Community Mobilization for Sickle Cell Disease Screening and Management among Tribal Populations in India: An Interventional Study	4
Dominantly Inherited β-Thalassemia Caused by a Single Nucleotide Deletion in Exon 3 of the β-Globin Gene: Hb Xiangyang (HBB: c.393delT)	4
Research Progress of Cell-Free Fetal DNA in Non-Invasive Prenatal Diagnosis of Thalassemia	4

Comparison of Sickle Solubility Test with Mass Spectrometry for Hemoglobin S Confirmation	4
A 6-Year Follow-up of a Chinese Child with Homozygous β ⁰ -Thalaasemia and a Heterozygous KLF1 Mutation	4
A Review of Gene Therapies for Hemoglobinopathies	4
Rapid Identification of β-Thalassemia, Hb E, and High Hb F Determinants Using a High-Resolution Melting Analysis: Application in Prenatal Diagnosis in Southern Thailand	3
The Risk of Rapid Deterioration of Sepsis in the Patient with Non-Transfusion-Dependent Thalassemia: A Case Report	3
The Impact of Region-of-Interest Selection on MRI T ₂ * Quantification of Hepatic Iron Overload in Thalassemia Major	3
Hb Huadu [α124(H7)Ser→Thr (TCC>ACC), HBA2: c.373T>A]: A Novel Variant of the α-Globin Gene	3
Beyond Diagnosis: A Systematic Review of Artificial Intelligence and Deep Learning in Monitoring Iron Overload and Organ Toxicity in Beta-Thalassemia	3
A Rare Case of Abnormal Hemoglobin Variant Hb Mizuho: [HBB: c.206T > C β 68(E12) Leu-Pro]: A First Report in the Chinese Population	3
Identification of a Rare β-Globin Chain Hemoglobin Variant: HBB : C.24G > C (Glu7Asp)	3
Hypercoagulability in Sickle Cell Disease: A Thrombo-Inflammatory Mechanism	3
The Spectrum of HBB Mutations among 2315 Beta Thalassemia Patients of a Reference Clinic in Tehran-Iran	3
A Hemoglobin Variant, Resulting from a Novel Missense Mutation [CD 112(G14) Cys > Ser (TGT > TCT); HBB : C.338G > C], Was Discovered by MALDI-TOF MS	3
Point-of-Care Newborn Screening for Sickle Cell Disease at Selected Health Facilities in the Gambia	3
Hyperbaric Oxygen Therapy in Sickle Cell Disease: A Narrative Review of Mechanisms, Clinical Applications, and Future Directions	3
The Most Common Types of 3.7 Kilobase Deletion in the Iranian Population	2
Genetically Confirmed Dual Hematologic Disorder: A Case of β-Thalassemia with Frameshift Mutation and Type 3 von Willebrand Disease in a Pediatric Patient	2
Current Status of β-Thalassemic Burden in India	2
Prevalence and Spectrum of β-Thalassemia Mutations in Baghdad, Iraq: Data from the Premarital Screening Program	2
HBA2 Gene Conversion Disrupts Reverse Dot-Blot Hybridization Genotyping: A Prenatal Case of Non-Deletional α-Thalassemia Misdiagnosis	2
Therapeutic Response to Hydroxyurea in Beta-Thalassemia Intermedia with Rare Mutation: A Case Report	2
miR-192-5p as a Potential Diagnostic Biomarker for β-Thalassemia and Its Regulatory Mechanism via Targeting BCL11A	2
Polyneuropathy Associated with Age of Starting the Transfusion and Serum Ferritin Level in Iranian Patients with Thalassemia Major and Intermedia	2
Dynamic Viscosity of Hemoglobin Solutions Determined by Transverse Proton Magnetic Relaxation	2
Fist Detection of Hb Suqian[β42(CD1) Phe→Leu, HBB:c.129T > A] in Han Chinese	2
High Prevalence of Hb Riccarton Challenges HbA1c Analysis in a Danish Clinical Laboratory Using the Tosoh G11	2
Identification of a Novel Mutation in the 3′ Untranslated Region of the β-Globin Gene (HBB:c.*132C>G) in a Chinese Family	2
Alpha Thalassemia Major: From a Lethal to a Treatable Condition	2
Adherence to Iron Chelation Therapy Among Children with Beta Thalassemia Major: A Multicenter Cross-Sectional Study	2
A New δ-Globin Gene Variant: Hb A2-Yulin [δ46(CD5)Gly→Arg, HBD : C.139G > A]	2
Prediction of Heart and Liver Iron Overload in β-Thalassemia Major Patients Using Machine Learning Methods	2
First Report of Hb Youngstown in Capillary Electrophoresis and Overlapping Hb Analysis Findings with Hb Rush	2
“Assessing Long-Term Health-Related Quality of Life in Children with β-Thalassemia Major Following Hematopoietic Stem Cell Transplantation” – A Cross-Sectional Comparative Study	2
Difficult Cases in the Diagnosis of Thalassemia Syndromes	2
Comparative Analysis of Erythroferrone and Hepcidin as Emerging Biomarkers of Iron Homeostasis in Patients with β-Thalassemia Major: A Case-Control Study from Pakistan	2
Estimating the Cost of Thalassemia Care across the World: A Thalassemia International Federation Model	1
Comparative Study of Ferritin Levels between Two Generic Formulations of Deferasirox in Sri Lankan Patients with Beta-Thalassemia Major	1
Hb Nivaria: A New Hemoglobin Variant with a Shortened α-Globin Chain [α139(HC1)Lys→Stop; HBA1: c.418A>T]	1
Utility of Molecular Sequencing and Hematologic Parameters for Diagnosis of α-Thalassemia: A Perspective of the National Reference Laboratory	1
Hereditary Hemolytic Anemia Due to PIEZO1 Red Blood Cell Membrane Defect	1
A Rare Case of De Novo α-Globin Cluster Duplication, ααα ¹⁰² (NC_000016.10: G.79903_181947dup) in a β-	1
Ameliorating Mental Health Issues in Sickle Cell Disease Patients: A Viewpoint	1
Beyond Hypersplenism: Splenic Marginal Zone Lymphoma in an Older Adult with Hemoglobin E/Beta-Thalassemia	1
Sociodemographic and Clinical Factors Predictive of Poor Health-Related Quality of Life of Children with Sickle Cell Anemia in The Gambia	1
Kinetic Characterisation of the R and R2 Quaternary Structures of Oxyhemoglobins Arising from Different Effects of Inositol Hexakisphosphate on Their Reactions with Ellman’s Reagent	1
SickleInAfrica Consortium: A Seven-Country Study Evaluating the Performance of Dried Blood Spot Point-of-Care Testing in Newborn Screening for Sickle Cell Disease	1
A Novel β-Globin Variant, Hb Odder [ HBB : C.316C > G; CD105 (Leu > Val)]	1
Poor Sleep Quality in Jamaican Adults With Sickle Cell Disease: Prevalence, Risk Factors, and Association With Quality of Life	1
The Effect of Single Nucleotide Polymorphisms on Clinical Phenotypes of Sabahan Transfusion-Dependent β-Thalassemia Patients with Homozygous Filipino β ⁰ -Deletion	1
A New Hemoglobin Variant: Hb Tangshan [ HBA1 : c.239C > T, CD79(GCG > GTG)(Ala > Val)] Detected by MALDI-TOF MS	1

Hb A ₂ -Pontedera [δ93(F9) Cys > Trp; HBD : C.282T > G]: A New δ-Globin Chain Variant Detected by Screening Tests for Hemoglobin	1
Existing Tubular Injury in β-Thalassemia Major Patients Receiving Iron Chelating Agents with Normal Creatinine Level in East Java, Indonesia	1
Hb Ryazan: An Elongated C‐Terminal β-Chain Due to a New Frameshift Mutation, HBB: c.396delG p.Val133Trpfs*25	1
The First Compound Heterozygosity for Two Different α-Thalassemia Determinants Causes Hb Bart’s Hydrops Fetalis in a Chinese Family	1
A Novel 165 Kb Duplication Involving the α-Globin Gene Cluster Is Identified by Low-Pass Whole Genome Sequencing in a Chinese Thalassemia Intermedia Patient	1
Rare Case of Homozygosity for CYB5R3 Variant c.235C > T p.(Arg79Trp) Causing Type II Methemoglobinemia	1
Implementation of a Dedicated Hematopoietic Stem Cell Transplant Program for Sickle Cell Disease in Lagos, Nigeria: Challenges and Opportunities	1
Encouraging Outcomes of Hematopoeitic Stem Cell Transplantation in Pediatric Sickle Cell Disease- A Decade-Long Experience from the Developing World	1
Rare Coexistence of Hemoglobin D-Iran and Hemoglobin S in a Case from Central India	1
Pituitary Versus Hepatic Iron Assessment in Transfusion-Dependent Thalassemia: Is Signal Intensity Ratio a Reliable Tool?	1
Hypersplenism Affects Growth and Haematology in HbSS: Observations from the Jamaican Birth Cohort	1
Evaluation of the Neuropathic Component of Pain in Sickle Cell Disease	1
Haplotype-Specific Genetic Epidemiology of Sickle Cell Anemia Patients in Accra, Ghana: Patterns, Clinical Implications, and Public Health Responses	1
β-Thalassemia Trait Caused by a SUPT5H Defect: First Report of an Intragenic Deletion	1
Successful Treatment of a Child with Hemoglobin Hammersmith with Hematopoietic Stem Cell Transplantation	1
Knowledge of Sickle Cell Disease, Awareness of Sickle Cell Trait Status and Its Impact on Relationships Among Students at a Historically Black College	1
Hb Yongning [β1 (NA1) Val→Leu; HBB :C.4G > C]: A Novel Hemoglobin Variant Causing Significant Interference in Common Glycated Hemoglobin Assays	1
β ⁰ -Thalassemia Caused by a Novel Nonsense Mutation [ HBB: c.199A > T]	1
KLF1 Knockdown Differentially Regulates γ-Globin Expression: Inhibition in K562 Cells but Reactivation in β-Thalassemia Major Erythrocytes with Erythropoiesis Disruption	1
Prevalence and Molecular Characteristics of Hemoglobin Variants in Laibin City, Central Guangxi of Southern China	1
Nonsense Variant in the β-Spectrin Gene Causing Hereditary Spherocytosis Identified by Whole-Exome Sequencing in a Child	1
Pyruvate Kinase Activators for Sickle Cell Disease: An Exploratory Systematic Review and Meta-Analysis	1
HbH Disease in an Elderly Man Due to Compound Heterozygosity for Deletional α-Thalassemia and Hb Dubai ( HBA2 :c.368A > T)	1
Mild Thalassemic Effect of Heterozygous Hb Sogn in a Large Cohort from Routine Hemoglobinopathy Investigation	1
Sickle Cell Disease in Brazil: Current Management	1
Identification of a Novel Variant c.163delG in HBB Gene Resulting in a Beta Null Phenotype in a Proband with Thalassemia Intermedia	1
Efficacy and Safety of a Dispersible Tablet of GPO-Deferasirox Monotherapy among Children with Transfusion-Dependent Thalassemia and Iron Overload	1
Misdiagnosis of α-Thalassemia Heterozygotes as Homozygotes Due to Base Mutations in the Primer Binding Region	1
Sickling Disorder Caused by Co-Inheritance of Hemoglobin Maputo and Hemoglobin S: Case Report and Review of the Literature	1
Targeted Next-Generation Sequencing Reveals a Large Novel β-Thalassemia Deletion that Removes the Entire HBB Gene	1
Premarital Screening is Pivotal in Reducing the Births of Babies Affected with Thalassemia Major in Iraq	1
First Case of Hb City of Hope ( HBB : c.208G > A) in Andalusia. A Molecular Update of β-Thalassemia in Southwestern Spain (Huelva Province)	1
The First Thai Case of Nondeletional HbH Disease Caused by Compound Heterozygosity for α-Thalassemia-1 Chiang Rai (-- ^CR ) Type Deletion with Hb Constant Spring	1
Hemoglobin β-Globin Variants In Hispanic Patients: An Institutional Experience From Dallas, Texas	1
Hb A ₂ -Getafe [δ 132 (H10) Lys > Thr, HBD : c.88C > A]: New Mutation in the δ-Globin Gene in a Spanish Patient	1
A Novel Frameshift Mutation( HBA2 :C.337delC) Associated With α-Thalassemia Trait Detected by Next-Generation Sequencing in Southern China	1
Long-Term and Transient Calcium Channel Blockers; A Systematic Review of Their Role in the Management of Cardiomyopathy in Transfusion-Dependent Thalassemia	1
A Rare Severe Hemolytic Crisis in Homozygous Hemoglobin E (HbEE)	1
Diagnosis and Treatment of Alpha Thalassemia Major	1
Spectrum of β-Thalassemia and Other Hemoglobinopathies in the Saurashtra Region of Gujarat, India: Analysis of a Large Population Screening Program	1
Phenotypic Analysis of the HBA2 : C.95 G > A Mutation in China	1
Risk Factors for Anemia in Silent Carrier or Minor α-Thalassemia	1
Silent Cerebral Infarcts in Iraqi Patients with Sickle Cell Disease	1
Prevalence and Molecular Characterization of β-Thalassemia in Kirkuk Province of Northern Iraq	1
A Rare Hemoglobin Variant Detected for the First Time in Türkiye (Hb Iraq-Halabja): Evaluation of the Effect of Variant Hemoglobins on HbA1c Methods	1
Perspectives of General Hematologists on a Proposed Shared Care Model for HSCT in Sickle Cell Disease	1
Severe Hb H Disease Caused by Hb Zürich–Albisrieden (HBA1: c.178G>C): Another Case Report	1