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Coexistence of rare variant HbD Punjab [α2β2121(Glu→Gln)] and alpha 3.7 kb deletion in a young boy of Hindu family in West Bengal, India

  • Arijit Ghosh , Jayasri Basak EMAIL logo and Ashis Mukhopadhyay
Published/Copyright: March 5, 2016
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Cellular and Molecular Biology Letters
From the journal Cellular and Molecular Biology Letters Volume 20 Issue 5

Abstract

HbD Punjab is a variant of hemoglobin which occurs as a result of mutation in codon 121 (GAA>CAA) of the β-globin gene, which replaces glutamic acid with glutamine (Glu→Gln). The heterozygous state of HbD does not produce any clinical or hematological symptoms, although its association with HbS and thalassemia produces clinically significant but less severe conditions. The homozygous state produces mild hemolytic anemia and mild to moderate splenomegaly. Alpha-thalassemia is characterized by reduction or absence of the α-globin chains due to deletional or non-deletional mutations of α-globin genes located on chromosome 16. The present study describes a Hindu family where both HbD Punjab and alpha 3.7 kb deletion are present among the members in the heterozygous and double heterozygous state. Comparison of clinical and hematological parameters between the heterozygous and double heterozygous state of HbD and the alpha 3.7 kb deletion is also discussed here. According to our study, the prevalence rate of HbD Punjab is very low, i.e. 0.06%.

Keywords: HbD Punjab; Alpha 3.7 kb deletion; Hemoglobinopathy; Double heterozygous; DNA sequencing; Hindu family

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Received: 2015-7-7
Accepted: 2015-9-28
Published Online: 2016-3-5
Published in Print: 2015-12-1

© University of Wroclaw, Poland

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https://doi.org/10.1515/cmble-2015-0043
Keywords for this article
HbD Punjab; Alpha 3.7 kb deletion; Hemoglobinopathy; Double heterozygous; DNA sequencing; Hindu family

Articles in the same Issue

  1. How taste works: cells, receptors and gustatory perception
  2. Non-cooperative immobilization of residual water bound in lyophilized photosynthetic lamellae
  3. Coexistence of rare variant HbD Punjab [α2β2121(Glu→Gln)] and alpha 3.7 kb deletion in a young boy of Hindu family in West Bengal, India
  4. Somatic stem cell aging and malignant transformation – impact on therapeutic application
  5. 1H NMR-based metabolic profiling for evaluating poppy seed rancidity and brewing
  6. Homology arms of targeting vectors for gene insertions and CRISPR/Cas9 technology: size does not matter; quality control of targeted clones does
  7. Death domain associated protein (Daxx), a multi-functional protein
  8. In silico screening of alleged miRNAs associated with cell competition: an emerging cellular event in cancer
  9. MGL induces nuclear translocation of EndoG and AIF in caspase-independent T cell death
  10. Cerivastatin represses atherogenic gene expression through the induction of KLF2 via isoprenoid metabolic pathways
  11. Proteasomes raise the microtubule dynamics in influenza A (H1N1) virus-infected LLC-MK2 cells
  12. Purinergic signaling and the functioning of the nervous system cells
  13. The effect of cultureware surfaces on functional and structural components of differentiated 3T3-L1 preadipocytes
  14. Ramipril inhibits high glucose-stimulated up-regulation of adhesion molecules via the ERK1/2 MAPK signaling pathway in human umbilical vein endothelial cells
  15. The effect of nicotine on the expressions of the α7 nicotinic receptor gene and Bax and Bcl-2 proteins in the mammary gland epithelial-7 breast cancer cell line and its relationship to drug resistance
  16. The cloning, expression and purification of recombinant human neuritin from Escherichia coli and the partial analysis of its neurobiological activity
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