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14-09-2023 | Thalassemia | Scientific Letter

Compound Heterozygous for Asian Inversion Deletion Gγ (Aγδβ)⁰ and IVS1-5 (G→C) β Thalassemia Mutation in a Transfusion-Dependent Patient

Authors: Sujata Dixit, Arundhuti Das, Swati Sudeshna Panigrahi, Palash Das, Priyanka Samal, Madhusmita Bal, Sanghamitra Pati, Manoranjan Ranjit

Published in: Indian Journal of Pediatrics | Issue 3/2024

Excerpt

To the Editor: An 11-y-old girl along with her parents and sibling was referred to ICMR-RMRC, Bhubaneswar for thalassemia variant characterization. She was transfusion dependent and presented with joint pain, pallor, splenomegaly, thalassemia facies, and anemia (Hb: 8.6 g/dL). A complete blood count (CBC) revealed low MCV and MCH [(father/ mother: 65.5/73.3 fl, brother: 73.1 fl) (father/ mother: 19.2/ 22.32 pg, brother: 12.9 pg), respectively] in parents and sibling. …

Craig JE, Barnetson RA, Prior J, Raven JL, Thein SL. Rapid detection of deletions causing delta beta-thalassemia and hereditary persistence of fetal hemoglobin by enzymatic amplification. Blood. 1994;83:1673–82.CrossRefPubMed

Varawalla NY, Old JM, Sarkar R, Venkatesan R, Weatherall DJ. The spectrum of beta- thalassemia mutation on the indian subcontinent: the basis of prenatal diagnosis. Br J Haematol. 1991;78:242–7.CrossRefPubMed

Dehury S, Purohit P, Meher S, Das K, Patel S. Compound heterozygous state of β-thalassemia with IVS1-5 (G→C) mutation and indian deletion-inversion Gγ(Aγδβ)(o)-thalassemia in eastern India. Rev Bras Hematol Hemoter. 2015;37:202–6.CrossRefPubMedPubMedCentral

Title: Compound Heterozygous for Asian Inversion Deletion Gγ (Aγδβ)0 and IVS1-5 (G→C) β Thalassemia Mutation in a Transfusion-Dependent Patient
Authors: Sujata Dixit
Arundhuti Das
Swati Sudeshna Panigrahi
Palash Das
Priyanka Samal
Madhusmita Bal
Sanghamitra Pati
Manoranjan Ranjit
Publication date: 14-09-2023
Publisher: Springer India
Keyword: Thalassemia
Published in: Indian Journal of Pediatrics / Issue 3/2024
Print ISSN: 0019-5456
Electronic ISSN: 0973-7693
DOI: https://doi.org/10.1007/s12098-023-04825-0

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Compound Heterozygous for Asian Inversion Deletion Gγ (Aγδβ)⁰ and IVS1-5 (G→C) β Thalassemia Mutation in a Transfusion-Dependent Patient

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Keynote webinar | Spotlight on medication adherence

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