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Blessing in disguise; a case of Hereditary Persistence of Fetal Hemoglobin.

MedStar author(s):

Citation: Journal of Community Hospital Internal Medicine Perspectives. 8(6):380-381, 2018.PMID: 30559951Institution: MedStar Franklin Square Medical Center | Medstar Union Memorial HospitalDepartment: Internal MedicineForm of publication: Journal ArticleMedline article type(s): Journal ArticleSubject headings: IN PROCESS -- NOT YET INDEXEDYear: 2018 ISSN:

2000-9666

Name of journal: Journal of community hospital internal medicine perspectivesAbstract: Fetal Hemoglobin (HbF, alpha2gamma2) 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: alpha2beta2) 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.All authors: Hoti N, Mustafa S, Pudal A, Shaukat I, Yassin SFiscal year: FY2019Digital Object Identifier:

https://dx.doi.org/10.1080/20009666.2018.1536241

ORCID:

https://orcid.org/0000-0001-9797-7085 https://orcid.org/0000-0002-5121-6704 https://orcid.org/0000-0001-9797-7085 https://orcid.org/0000-0002-5121-6704
https://orcid.org/0000-0001-9797-7085 https://orcid.org/0000-0002-5121-6704 https://orcid.org/0000-0001-9797-7085 https://orcid.org/0000-0002-5121-6704

Date added to catalog: 2019-01-08

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Title notes ( 2 )

Holdings
Item type	Current library	Collection	Call number	Status	Date due	Barcode
Journal Article	MedStar Authors Catalog	Article	30559951	Available		30559951

Fetal Hemoglobin (HbF, alpha2gamma2) 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: alpha2beta2) 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.

English