Beta-Thalassemia (B-THAL) Animal Model Service

Beta-thalassemia (B-THAL) animal models are genetically engineered preclinical systems that recapitulate the pathophysiology of human β-thalassemia. At Protheragen, we pioneer the development of highly precise B-THAL animal models to critically accelerate preclinical therapeutic discovery. Our expertise delivers gold-standard, biologically relevant models that provide our clients with reliable data for evaluating drug efficacy.

Introduction to Beta-Thalassemia (B-THAL) Animal Models

Beta-thalassemia (B-THAL) animal models, primarily engineered in rodents, are indispensable pre-clinical tools designed to replicate the genetic basis and complex pathophysiology of the human disease. These models are typically generated through targeted disruption or modification of the β-globin genes (HBB), leading to a spectrum of disease severities that mirror the human condition, from thalassemia minor to major. They reliably exhibit key hallmarks such as ineffective erythropoiesis, chronic hemolytic anemia, reduced hemoglobin levels, and iron overload, providing a critical in vivo system for investigating disease mechanisms, assessing novel therapeutic strategies, and evaluating drug efficacy and safety prior to human trials.

Fig.1 The current animal models for simulating β-thalassemia (B-THAL). (Zhang S, et al., 2025)

Our Services

Protheragen provides comprehensive, end-to-end animal model development services for Beta-thalassemia (B-THAL), delivering genetically precise and phenotypically validated pre-clinical models to accelerate your therapeutic research. Our end-to-end service, from initial gene targeting and breeding to in-depth phenotypic characterization and hematological analysis, provides you with robust, reliable tools for effective drug evaluation and mechanistic studies.

Animal Models of Beta-Thalassemia (B-THAL)

Leveraging advanced gene-editing technology, we specifically create custom mouse models, including constitutive knockouts, conditional alleles, and humanized genotypes, to accurately reproduce the complex pathophysiology of B-THAL.

• Hbb^th1/th1 Mice
• Hbb^th3/+ Mice
• Hbb^th3/th3 Mice
• HBB^-/- Mice

• IVS-2-654 Mutant Mice
• HbE Transgenic Mice
• Humanized BAC Mice
• Other Models

Featured Animal Models

Case Study-IVS-II-654 (Hbb^th−4/Hbb⁺) Mouse Model

Model Introduction

As a leading provider of animal model services, we successfully generated the IVS-II-654 (Hbb^th−4/Hbb⁺) mouse model for β-thalassemia research. This model was engineered by introducing a human β-globin gene carrying a pathogenic splicing mutation (IVS-II-654, C→T) into the mouse genome. This mutation disrupts normal mRNA splicing, leading to a deficiency in functional β-globin chains. The Hbb^th−4/Hbb⁺ heterozygous mice recapitulate key features of human β-thalassemia intermedia, making them a valuable tool for preclinical research.

Methodology

• Animal Model: Hbb^th−4/Hbb⁺ mutant mice (Beta) and wild-type (WT, Hbb⁺/Hbb⁺) littermate controls on a C57BL/6 background were used.
• Phenotypic Analysis Methods: Peripheral blood samples were collected from WT and Beta mice, and the following parameters were analyzed: red blood cell count (RBC), hemoglobin (HGB) concentration, hematocrit (HCT), mean corpuscular volume (MCV), mean corpuscular hemoglobin (MCH) content, red cell distribution width_standard deviation (RDW_SD), platelet count (PLT), white blood cell count (WBC), lymphocyte count (LYM), and minimum inhibited dilution (MID). This comprehensive panel was selected to definitively characterize the thalassemic anemia phenotype and its associated compensatory hematopoietic responses.

Phenotypic Analysis & Results

The Hbb^th−4/Hbb⁺ (Beta) mice exhibited a classic hematological profile consistent with β-thalassemia (Fig.2):

• Manifestations of Microcytic Hypochromic Anemia: Analysis of red blood cell indices revealed a significant and coordinated decrease in RBC, HGB, HCT, MCV, and MCH in Beta mice compared to WT controls. This collective reduction definitively confirms a state of anemia characterized by fewer, smaller (microcytic), and paler (hypochromic) red blood cells, which is a primary hallmark of β-thalassemia.
• Evidence of Compensatory Stress and Hematopoietic Dysregulation: Concurrently, Beta mice displayed significant elevations in RDW, PLT, WBC, LYM, and MID. The markedly increased RDW indicates a high degree of anisocytosis (variation in red cell size), reflecting stressed and ineffective erythropoiesis. The elevated counts of platelets and white blood cells are consistent with a compensatory hyperproliferation of the bone marrow and splenic extramedullary hematopoiesis, a common secondary response to chronic anemia and hemolysis.

Fig.2 Hematological validation of the Hbb^th−4/Hbb⁺ (Beta) mouse model. Data are presented as mean ± SEM (n=5-8). **p < 0.01 vs. WT.

Conclusion

This case study validates the IVS-II-654 (Hbb^th−4/Hbb⁺) mouse as a robust and reliable model for β-thalassemia research. The model successfully recapitulates the core hematological abnormalities of the human disease, including microcytic hypochromic anemia, abnormal red cell morphology, and compensatory hematopoietic responses. This makes it an ideal preclinical tool for investigating the pathophysiology of β-thalassemia and for evaluating novel therapeutic interventions, such as gene therapy and drug treatments.

Contact Us

At Protheragen, we are dedicated to delivering comprehensive Beta-thalassemia (B-THAL) animal models to accelerate therapeutic discovery through integrated pharmacodynamics (PD), pharmacokinetics (PK), and toxicology assessments. Our genetically validated models are indispensable for evaluating drug efficacy, biodistribution, and safety, generating the robust preclinical evidence required to advance candidates toward clinical trials. If you are interested in our animal model development services, please do not hesitate to contact us for more details and quotation information.

Reference

• Zhang S, Dong Z, Yan W, et al. The Progress in Treatment of β-Thalassemia and Research on Animal Models of the Disease[J]. Applied Sciences, 2025, 15(3): 1661.