Hb E-β-Thalassemia in Five Indian States.

Area of Science:

• Hematology
• Medical Genetics
• Molecular Biology

Background:

• Hemoglobin E (Hb E) combined with β-thalassemia (β-thal) presents with highly variable clinical outcomes.
• Understanding the clinical, hematological, and molecular profiles of Hb E-β-thal is crucial for patient management.
• Previous studies have not comprehensively analyzed this condition across diverse Indian populations.

Purpose of the Study:

• To report the clinical features, hematological profiles, and molecular characteristics of Hb E-β-thalassemia patients from five Indian states.
• To correlate clinical severity with specific β-thalassemia mutations, XmnI polymorphisms, and α genotypes.
• To investigate potential geographic or ethnic variations in the presentation of Hb E-β-thalassemia.

Main Methods:

• Clinical evaluation of 78 Hb E-β-thal patients, including assessment of disease severity using a clinical score.
• Hematological profiling and molecular analysis, including identification of β-thalassemia mutations, XmnI polymorphisms, and α genotypes.
• Comparison of clinical and molecular data across different severity groups and geographic regions.

Main Results:

• A significant proportion of patients (34/78) were severely affected, requiring regular blood transfusions, with earlier onset compared to milder cases.
• Splenomegaly was observed in 34 patients, and five underwent splenectomy.
• The IVS1-5 (G>C) mutation was the most common β-thalassemia mutation; no significant differences in clinical or molecular characteristics were found across regions or ethnic groups.

Conclusions:

• Hb E-β-thalassemia exhibits a broad clinical spectrum in India, influenced by underlying genetic factors.
• The study identified key mutations and genetic markers associated with disease severity.
• No distinct regional or ethnic variations were observed, suggesting a commonality in the genetic basis of Hb E-β-thalassemia across India.