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Blessing in disguise; a case of Hereditary Persistence of Fetal Hemoglobin
Fetal Hemoglobin (HbF, α2γ2) is produced from the eighth week of gestation, constitutes 60 – 80 % of total hemoglobin by birth, which is then replaced with adult Hemoglobin A1 (HbA1: α2β2) by 6–12 months. Hereditary Persistence of Fetal Hemoglobin (HPFH) is a rare benign asymptomatic genetic disorde...
Autores principales: | , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Taylor & Francis
2018
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6292363/ https://www.ncbi.nlm.nih.gov/pubmed/30559951 http://dx.doi.org/10.1080/20009666.2018.1536241 |
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author | Shaukat, Irfan Pudal, Amrit Yassin, Sayf Höti, Naseruddin Mustafa, Sadaf |
author_facet | Shaukat, Irfan Pudal, Amrit Yassin, Sayf Höti, Naseruddin Mustafa, Sadaf |
author_sort | Shaukat, Irfan |
collection | PubMed |
description | Fetal Hemoglobin (HbF, α2γ2) is produced from the eighth week of gestation, constitutes 60 – 80 % of total hemoglobin by birth, which is then replaced with adult Hemoglobin A1 (HbA1: α2β2) by 6–12 months. Hereditary Persistence of Fetal Hemoglobin (HPFH) is a rare benign asymptomatic genetic disorder where the HbF persists, and incidentally discovered on screening for other hemoglobinopathies. In adults, the variation in HbF levels could also be associated with other disease states, including hemoglobinopathies, leukemias and bone marrow failure syndromes. Here we present a case of a young asymptomatic female with the incidental finding of HPFH who was misdiagnosed as the sickle cell disease. It is important to have awareness about HPFH and should be distinguished from other causes of elevated HbF. |
format | Online Article Text |
id | pubmed-6292363 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2018 |
publisher | Taylor & Francis |
record_format | MEDLINE/PubMed |
spelling | pubmed-62923632018-12-17 Blessing in disguise; a case of Hereditary Persistence of Fetal Hemoglobin Shaukat, Irfan Pudal, Amrit Yassin, Sayf Höti, Naseruddin Mustafa, Sadaf J Community Hosp Intern Med Perspect Case Report Fetal Hemoglobin (HbF, α2γ2) is produced from the eighth week of gestation, constitutes 60 – 80 % of total hemoglobin by birth, which is then replaced with adult Hemoglobin A1 (HbA1: α2β2) by 6–12 months. Hereditary Persistence of Fetal Hemoglobin (HPFH) is a rare benign asymptomatic genetic disorder where the HbF persists, and incidentally discovered on screening for other hemoglobinopathies. In adults, the variation in HbF levels could also be associated with other disease states, including hemoglobinopathies, leukemias and bone marrow failure syndromes. Here we present a case of a young asymptomatic female with the incidental finding of HPFH who was misdiagnosed as the sickle cell disease. It is important to have awareness about HPFH and should be distinguished from other causes of elevated HbF. Taylor & Francis 2018-12-11 /pmc/articles/PMC6292363/ /pubmed/30559951 http://dx.doi.org/10.1080/20009666.2018.1536241 Text en © 2018 The Author(s). Published by Informa UK Limited, trading as Taylor & Francis Group on behalf of Greater Baltimore Medical Center. http://creativecommons.org/licenses/by-nc/4.0/ This is an Open Access article distributed under the terms of the Creative Commons Attribution-NonCommercial License (http://creativecommons.org/licenses/by-nc/4.0/), which permits unrestricted non-commercial use, distribution, and reproduction in any medium, provided the original work is properly cited. |
spellingShingle | Case Report Shaukat, Irfan Pudal, Amrit Yassin, Sayf Höti, Naseruddin Mustafa, Sadaf Blessing in disguise; a case of Hereditary Persistence of Fetal Hemoglobin |
title | Blessing in disguise; a case of Hereditary Persistence of Fetal Hemoglobin |
title_full | Blessing in disguise; a case of Hereditary Persistence of Fetal Hemoglobin |
title_fullStr | Blessing in disguise; a case of Hereditary Persistence of Fetal Hemoglobin |
title_full_unstemmed | Blessing in disguise; a case of Hereditary Persistence of Fetal Hemoglobin |
title_short | Blessing in disguise; a case of Hereditary Persistence of Fetal Hemoglobin |
title_sort | blessing in disguise; a case of hereditary persistence of fetal hemoglobin |
topic | Case Report |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6292363/ https://www.ncbi.nlm.nih.gov/pubmed/30559951 http://dx.doi.org/10.1080/20009666.2018.1536241 |
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