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A rare and novel mutation in a beta-globin gene of thalassemia patient of Pakistan: A case report

INTRODUCTION: Thalassemia is a genetically complex disorder that evolves from a mutation in the beta chain of hemoglobin. Much work has been done on the common mutations, but some rare mutations have been found that impact and diversify the disease spectrum. CASE PRESENTATION: Our case report is on...

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Autores principales: Rashid, Arsala, Tabassum, Shehroze, Naeem, Aroma, Naveed, Asif, Iqbal, Haris, Tabassum, Shehram, Rafiq, Humera
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9793159/
https://www.ncbi.nlm.nih.gov/pubmed/36582856
http://dx.doi.org/10.1016/j.amsu.2022.104918
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author Rashid, Arsala
Tabassum, Shehroze
Naeem, Aroma
Naveed, Asif
Iqbal, Haris
Tabassum, Shehram
Rafiq, Humera
author_facet Rashid, Arsala
Tabassum, Shehroze
Naeem, Aroma
Naveed, Asif
Iqbal, Haris
Tabassum, Shehram
Rafiq, Humera
author_sort Rashid, Arsala
collection PubMed
description INTRODUCTION: Thalassemia is a genetically complex disorder that evolves from a mutation in the beta chain of hemoglobin. Much work has been done on the common mutations, but some rare mutations have been found that impact and diversify the disease spectrum. CASE PRESENTATION: Our case report is on a young adult who presented with anemia, gall stones, and off-and-on transfusion dependency. A detailed workup revealed that the patient was suffering from thalassemia intermedia. The interesting finding was that the patient, product of non-consanguineous marriage was homozygous for beta thalassemia mutation on genetic analysis. A detailed genetic analysis of the parents revealed them as carriers for the same mutation. It was found that patient was homozygous for a rare and novel mutation −88(C > A)[HBB:c.-138C  >  A] on whole gene sequencing. DISCUSSION: The area of genomics in thalassemia is rapidly growing, and our case report aims to update the current knowledge of thalassemia's genomic information in Pakistan. The mutation found in our patient was −88(C > A)[HBB:c.-138C  >  A], and the data provided by the National Library of Medicine for this mutation as Allele ID: 380597 and variant type of single nucleotide variant shows that only ten such cases exist in the world with this rare mutation. Our case would be the 11th case in the world and 1st in Pakistan according to the literature, reporting above mentioned mutation. CONCLUSION: Further translational study is required to accurately utilize genomic data as an instrument of precision treatment in thalassemia patients, especially in underdeveloped countries like Pakistan.
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spelling pubmed-97931592022-12-28 A rare and novel mutation in a beta-globin gene of thalassemia patient of Pakistan: A case report Rashid, Arsala Tabassum, Shehroze Naeem, Aroma Naveed, Asif Iqbal, Haris Tabassum, Shehram Rafiq, Humera Ann Med Surg (Lond) Case Report INTRODUCTION: Thalassemia is a genetically complex disorder that evolves from a mutation in the beta chain of hemoglobin. Much work has been done on the common mutations, but some rare mutations have been found that impact and diversify the disease spectrum. CASE PRESENTATION: Our case report is on a young adult who presented with anemia, gall stones, and off-and-on transfusion dependency. A detailed workup revealed that the patient was suffering from thalassemia intermedia. The interesting finding was that the patient, product of non-consanguineous marriage was homozygous for beta thalassemia mutation on genetic analysis. A detailed genetic analysis of the parents revealed them as carriers for the same mutation. It was found that patient was homozygous for a rare and novel mutation −88(C > A)[HBB:c.-138C  >  A] on whole gene sequencing. DISCUSSION: The area of genomics in thalassemia is rapidly growing, and our case report aims to update the current knowledge of thalassemia's genomic information in Pakistan. The mutation found in our patient was −88(C > A)[HBB:c.-138C  >  A], and the data provided by the National Library of Medicine for this mutation as Allele ID: 380597 and variant type of single nucleotide variant shows that only ten such cases exist in the world with this rare mutation. Our case would be the 11th case in the world and 1st in Pakistan according to the literature, reporting above mentioned mutation. CONCLUSION: Further translational study is required to accurately utilize genomic data as an instrument of precision treatment in thalassemia patients, especially in underdeveloped countries like Pakistan. Elsevier 2022-11-17 /pmc/articles/PMC9793159/ /pubmed/36582856 http://dx.doi.org/10.1016/j.amsu.2022.104918 Text en © 2022 The Authors https://creativecommons.org/licenses/by/4.0/This is an open access article under the CC BY license (http://creativecommons.org/licenses/by/4.0/).
spellingShingle Case Report
Rashid, Arsala
Tabassum, Shehroze
Naeem, Aroma
Naveed, Asif
Iqbal, Haris
Tabassum, Shehram
Rafiq, Humera
A rare and novel mutation in a beta-globin gene of thalassemia patient of Pakistan: A case report
title A rare and novel mutation in a beta-globin gene of thalassemia patient of Pakistan: A case report
title_full A rare and novel mutation in a beta-globin gene of thalassemia patient of Pakistan: A case report
title_fullStr A rare and novel mutation in a beta-globin gene of thalassemia patient of Pakistan: A case report
title_full_unstemmed A rare and novel mutation in a beta-globin gene of thalassemia patient of Pakistan: A case report
title_short A rare and novel mutation in a beta-globin gene of thalassemia patient of Pakistan: A case report
title_sort rare and novel mutation in a beta-globin gene of thalassemia patient of pakistan: a case report
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9793159/
https://www.ncbi.nlm.nih.gov/pubmed/36582856
http://dx.doi.org/10.1016/j.amsu.2022.104918
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