Cargando…

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...

Descripción completa

Detalles Bibliográficos
Autores principales: Shaukat, Irfan, Pudal, Amrit, Yassin, Sayf, Höti, Naseruddin, Mustafa, Sadaf
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Taylor & Francis 2018
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
_version_ 1783380383650283520
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
work_keys_str_mv AT shaukatirfan blessingindisguiseacaseofhereditarypersistenceoffetalhemoglobin
AT pudalamrit blessingindisguiseacaseofhereditarypersistenceoffetalhemoglobin
AT yassinsayf blessingindisguiseacaseofhereditarypersistenceoffetalhemoglobin
AT hotinaseruddin blessingindisguiseacaseofhereditarypersistenceoffetalhemoglobin
AT mustafasadaf blessingindisguiseacaseofhereditarypersistenceoffetalhemoglobin