Rare Combinational Hemoglobinopathies

Hemoglobinopathies are genetic defects that result in the abnormal formation and composition of globin chains in the hemoglobin molecule. Sickle cell disease is one of the more common forms of genetic malformation, while Hemoglobin (Hb) Arab, Lepore, Korle-Bu, Kansas, D-Punjab, and Hasharon are unco...

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Detalles Bibliográficos
Autores principales: Husan, Ammar, Amarasinghe, Sam N, Fontenot, Andee, Khan, Muhammad W
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Cureus 2022
Materias:
Genetics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9825142/
https://www.ncbi.nlm.nih.gov/pubmed/36628031
http://dx.doi.org/10.7759/cureus.32327
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author Husan, Ammar
Amarasinghe, Sam N
Fontenot, Andee
Khan, Muhammad W
author_facet Husan, Ammar
Amarasinghe, Sam N
Fontenot, Andee
Khan, Muhammad W
author_sort Husan, Ammar
collection PubMed
description Hemoglobinopathies are genetic defects that result in the abnormal formation and composition of globin chains in the hemoglobin molecule. Sickle cell disease is one of the more common forms of genetic malformation, while Hemoglobin (Hb) Arab, Lepore, Korle-Bu, Kansas, D-Punjab, and Hasharon are uncommon presentations. Herein, we describe the case of a young patient who presented with a low hemoglobin level and was subsequently diagnosed with a rare combination of Hemoglobin Korle-Bu, D-Punjab, and sickle cell trait.
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spelling pubmed-98251422023-01-09 Rare Combinational Hemoglobinopathies Husan, Ammar Amarasinghe, Sam N Fontenot, Andee Khan, Muhammad W Cureus Genetics Hemoglobinopathies are genetic defects that result in the abnormal formation and composition of globin chains in the hemoglobin molecule. Sickle cell disease is one of the more common forms of genetic malformation, while Hemoglobin (Hb) Arab, Lepore, Korle-Bu, Kansas, D-Punjab, and Hasharon are uncommon presentations. Herein, we describe the case of a young patient who presented with a low hemoglobin level and was subsequently diagnosed with a rare combination of Hemoglobin Korle-Bu, D-Punjab, and sickle cell trait. Cureus 2022-12-08 /pmc/articles/PMC9825142/ /pubmed/36628031 http://dx.doi.org/10.7759/cureus.32327 Text en Copyright © 2022, Husan et al. https://creativecommons.org/licenses/by/3.0/This is an open access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.
spellingShingle Genetics
Husan, Ammar
Amarasinghe, Sam N
Fontenot, Andee
Khan, Muhammad W
Rare Combinational Hemoglobinopathies
title Rare Combinational Hemoglobinopathies
title_full Rare Combinational Hemoglobinopathies
title_fullStr Rare Combinational Hemoglobinopathies
title_full_unstemmed Rare Combinational Hemoglobinopathies
title_short Rare Combinational Hemoglobinopathies
title_sort rare combinational hemoglobinopathies
topic Genetics
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9825142/
https://www.ncbi.nlm.nih.gov/pubmed/36628031
http://dx.doi.org/10.7759/cureus.32327
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