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Key Determinants of Phenotypic Heterogeneity of Hb E/β Thalassemia: A Comparative Study from Eastern India

  • Siddhesh Arun Kalantri
  • Rudra Ray
  • Soumita Choudhuri
  • Swarnalata Roy
  • Maitreyee BhattacharyyaEmail author
Original Article
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Abstract

HbE Beta thalassemia is phenotypically very diverse disease. We aim to study role of various genetic factors in determining severity of this disease. 243 diagnosed cases of HbE Beta thalassemia were included in this study. Patients were divided in two arms—transfusion dependent and non-transfusion dependent arms. Various factors (percentage of haemoglobin F, hemoglobin E, type of Beta mutation, Xmn1 polymorphism, alpha deletion, HPFH mutation) were evaluated in these patients. Xmn1 polymorphism (homozygous and heterozygous), presence of HPFH mutation and alpha deletion were more prevalent in NTDT arm versus TDT arm (p value < 0.001). Higher prevelance of severe beta mutation IVS 1-5 (G → C) mutation {64(61.54%) vs 38(27.34); p value < 0.001} was found in TDT arm when above factors were excluded from analysis. Higher mean haemoglobin F and mean Hemoglobin E percentage was associated with NTDT arm (p value < 0.001). Various factors (hemoglobin F and E percentage, Xmn1 polymorphism, HPFH mutation, alpha deletion and IVS 1-5 Beta mutation) were identified to affect severity of this cohort.

Keywords

NTDT TDT HbE Beta thalassemia Genotype Phenotype 

Notes

Compliance with Ethical Standards

Conflict of interest

All the authors declare that there is no conflict of interest.

Ethical Approval

All procedures performed in studies involving human participants were in accordance with the ethical standards of the institutional and/or national research committee (include name of committee + reference number) and with the 1964 Helsinki declaration and its later amendments or comparable ethical standards.

Informed Consent

Informed consent was obtained from all individual participants included in the study.

Supplementary material

12288_2019_1176_MOESM1_ESM.docx (52 kb)
Supplementary material 1 (DOCX 51 kb)

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Copyright information

© Indian Society of Hematology and Blood Transfusion 2019

Authors and Affiliations

  1. 1.Institute of Haematology and Transfusion MedicineKolkataIndia

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