Compound heterozygous delta beta thalassemia with IVS 1-5 (G>C) mutation presenting as thalassemia major phenotype

Authors

  • Neha Goel Department of Pediatrics, VMMC and Safdarjung Hospital, New Delhi, India http://orcid.org/0000-0001-9575-0805
  • Kanika Kapoor Department of Pediatrics, VMMC and Safdarjung Hospital, New Delhi, India http://orcid.org/0000-0001-9177-5124
  • Srilatha Bajaj Department of Pediatrics, VMMC and Safdarjung Hospital, New Delhi, India
  • Sumita Saluja Department of Pediatrics, VMMC and Safdarjung Hospital, New Delhi, India

DOI:

https://doi.org/10.18203/2349-3291.ijcp20214543

Keywords:

GAP PCR, Leucocytoses, Thalassemia major

Abstract

Delta beta thalassemia is an unusual variant of thalassemia with elevated level of fetal hemoglobin (HbF). Unlike beta thalassemia, delta beta thalassemia heterozygotes have milder phenotype and homozygotes present as thalassemia intermedia phenotype.  We report a 11-month-old male child who presented with severe anemia, and hepatosplenomegaly, thalassemia major phenotype. On evaluation was diagnosed as compound heterozygous for δβ0/β thalassemia with IVS 1-5 (G>C) mutation. This case highlights the importance of genotyping of patients with δβ thalassemia and co-inheritance of δβ thalassemia deletion with point mutation for β-thalassemia results in severe clinical phenotype as thalassemia major. 

Author Biographies

Neha Goel, Department of Pediatrics, VMMC and Safdarjung Hospital, New Delhi, India

resident

department of Paediatrics

VMMC and Safdarjung Hospital

Kanika Kapoor, Department of Pediatrics, VMMC and Safdarjung Hospital, New Delhi, India

associate professo, IPNA fellow

department of pediatrics

VMMC and safdarjung Hospital

delhi

References

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Nadkarni A, Wadia M, Gorakshakar A, Kiyama R, Colah RB, Mohanty D. Molecular characterization of delta beta-thalassemia and hereditary persistence of fetal hemoglobin in the Indian population. Hemoglobin. 2008;32:425-33.

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Hariharan P, Kishnani P, Sawant P. Genotypic-phenotypic heterogeneity of δβ-thalassemia and hereditary persistence of fetal hemoglobin (HPFH) in India. Ann Hematol. 2020;99(7):1475-83.

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Published

2021-11-23

Issue

Section

Case Reports