Genotypic-phenotypic heterogeneity of δβ-thalassemia and hereditary persistence of fetal hemoglobin (HPFH) in India

Hariharan, Priya; Kishnani, Pooja; Sawant, Pratibha; Gorivale, Manju; Mehta, Pallavi; Kargutkar, Neha; Colah, Roshan; Nadkarni, Anita

doi:10.1007/s00277-020-04081-8

Cited by 7 publications

(1 citation statement)

References 22 publications

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“…Hariharan et al screened 5 deletions and 1 inversiondeletion in 192 individuals by GAP PCR and correlated the genotype with hematological indices and clinical phenotype of the patients. 6 The 138/192 individuals were found to be heterozygous for β-globin cluster deletions, of which the Asian Indian inversion-deletion was found to be the most frequent variation (39.9%). The authors observed that if Hb F above 25% HPFH-3 is more likely.…”

Section: Discussionmentioning

confidence: 99%

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

Goel

Kapoor

Bajaj

et al. 2021

Int J Contemp Pediatr

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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.

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Section: Discussionmentioning

confidence: 99%