同: hereditary persistence of fetal hemoglobin

Wikipedia preview

出典(authority):フリー百科事典『ウィキペディア（Wikipedia）』「2017/09/03 23:18:01」(JST)

wiki en

Hereditary persistence of fetal hemoglobin (HPFH, BrE: Hereditary persistence of foetal haemoglobin) is a benign condition in which significant fetal hemoglobin (hemoglobin F) production continues well into adulthood, disregarding the normal shutoff point after which only adult-type hemoglobin should be produced.^[1]

Causes

This is usually caused by mutations in the β or α globin gene cluster, or the γ promoter gene region. .^{[citation needed]} The percentage of incorrect expression might be as low as 10-15% or as high as 100% of the total hemoglobin, usually higher in homozygotes than in heterozygotes.^[2]

Epidemiology

HPFH may alleviate the severity of certain hemoglobinopathies and thalassemias, and is selected for in populations with a high prevalence of these conditions (which in turn are often selected for in areas where malaria is endemic). Thus, it has been found to affect Americans of African and Greek descent.^[3]

Presentation

The condition is usually asymptomatic, and is only noticed when screening for other hemoglobin disorders.

Benefit to persons with sickle cell disease

In persons with sickle cell disease, high levels of fetal hemoglobin as found in a newborn or as found abnormally in persons with hereditary persistence of fetal hemoglobin, the HbF causes the sickle cell disease to be less severe. In essence the HbF inhibits polymerization of HbS. A similar mechanism occurs with persons who have sickle cell trait. Approximately 40% of the hemoglobin is in the HbS form while the rest is in normal HbA form. The HbA form interferes with HbS polymerization.^[4]

References

^ http://cancerweb.ncl.ac.uk/cgi-bin/omd?hereditary+persistence+of+foetal+haemoglobin^{[dead link]}
^ http://www.enerca.org/PublicPages/Anaemiascovered/HereditarypersistanceoffoetalhaemoglobinHPFH/tabid/177/Default.aspx Archived July 25, 2008, at the Wayback Machine.
^ Friedman S, Schwartz E (January 1976). "Hereditary persistence of foetal haemoglobin with beta-chain synthesis in cis position (Ggamma-beta+-HPFH) in a negro family". Nature. 259 (5539): 138–40. PMID 1246351. doi:10.1038/259138a0.
^ Kumar, Vinay; Abbas, Abul K.; Fausto, Nelson; Aster, Jon (2009-05-28). Robbins and Cotran Pathologic Basis of Disease, Professional Edition: Expert Consult - Online (Robbins Pathology) (Kindle Locations 33411-33412). Elsevier Health. Kindle Edition.

UpToDate Contents

全文を閲覧するには購読必要です。 To read the full text you will need to subscribe.

1. 健常者および患者における胎児性ヘモグロビン（ヘモグロビンF） fetal hemoglobin hemoglobin f in health and disease
2. 異型鎌状赤血球症候群の概要 overview of variant sickle cell syndromes
3. 正常なヘモグロビンの構造および機能 structure and function of normal hemoglobins
4. Molecular genetics of the thalassemic syndromes
5. ヘモグロビン分析法およびヘモグロビン異常症を特定するための検査法 methods for hemoglobin analysis and hemoglobinopathy testing

English Journal

[Rare thalassemia mutations among southern Chinese population].

Lin F1, Yang L, Lin M, Zheng X, Lu M, Qiu M, Li L, Xie L.
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics.Zhonghua Yi Xue Yi Chuan Xue Za Zhi.2017 Dec 10;34(6):792-796. doi: 10.3760/cma.j.issn.1003-9406.2017.06.002.
PMID 29188602

Synergistic effect of two β globin gene cluster mutations leading to the hereditary persistence of fetal hemoglobin (HPFH) phenotype.

Hariharan P1, Sawant M1, Gorivale M1, Manchanda R2, Colah R1, Ghosh K3, Nadkarni A4.
Molecular biology reports.Mol Biol Rep.2017 Oct;44(5):413-417. doi: 10.1007/s11033-017-4125-0. Epub 2017 Sep 6.
PMID 28879539

Newborn screening for sickle cell disorders using tandem mass spectrometry: three years' experience of using a protocol to detect only the disease states.

Moat SJ1,2, Rees D1, George RS1, King L3, Dodd A1, Ifederu A4, Ramgoolam T4, Hillier S5.
Annals of clinical biochemistry.Ann Clin Biochem.2017 Sep;54(5):601-611. doi: 10.1177/0004563217713788. Epub 2017 Jul 17.
PMID 28656815

Japanese Journal

Molecular Mechanism of High Hemoglobin F Production in Southeast Asian-Type Hereditary Persistence of Fetal Hemoglobin

CHANGSRI Khaimuk,AKKARAPATHUMWONG Varaporn,JAMSAI Duangporn,WINICHAGOON Pranee,FUCHAROEN Suthat
International journal of hematology 83(3), 229-237, 2006-04-15
NAID 10017422015

T to C substitution at -175 or -173 of the γ-globin promoter affects GATA-1 and Oct-1 binding in vitro differently, but can independently reproduce HPFH phenotype in transgenic mice

LIU LR
J Biol Chem. 280, 7452-7459, 2005
NAID 30016365712

Molecular and hematological characterization of HPFH-6/Indian deletion-inversion ^<G>γ(^<A>γδβ)°-thalassemia/HbE in Thai patients

FUCHAROEN S
Am J Hematol. 71, 109-113, 2002
NAID 30001935519

Related Pictures

Effect of Swiss-type heterocellular HPFH Manrose-HPFH-3-Speed-Portable-Fan-Heater HPFH mean? - Definition of S-HPFH - S-HPFH Manrose-HPFH-Portable-Electric-Fan-Blow HP-SureStore-12000e-HPFH-005-REV-3 Warning Triangles traffic cone (HPFH-156) хемоглобин [HPFH] мкб D56.4 Estimation of the difference in HbF

★リンクテーブル★

「HP」

Hereditary persistence of fetal hemoglobin
Classification and external resources
Specialty	hematology
ICD-10	D56.4
ICD-9-CM	282.7
OMIM	141749
	[edit on Wikidata]

　　[★]

「HPF」

　　[★] 高倍率視野 high-power field

[1] ttp://cancerweb.ncl.ac.uk/cgi-bin/omd?hereditary+persistence+of+foetal+haemoglobin^{[dead link]}

[2] ttp://www.enerca.org/PublicPages/Anaemiascovered/HereditarypersistanceoffoetalhaemoglobinHPFH/tabid/177/Default.aspx Archived July 25, 2008, at the Wayback Machine.

[3] Friedman S, Schwartz E (January 1976). "Hereditary persistence of foetal haemoglobin with beta-chain synthesis in cis position (Ggamma-beta+-HPFH) in a negro family". Nature. 259 (5539): 138–40. PMID 1246351. doi:10.1038/259138a0.

[4] Kumar, Vinay; Abbas, Abul K.; Fausto, Nelson; Aster, Jon (2009-05-28). Robbins and Cotran Pathologic Basis of Disease, Professional Edition: Expert Consult - Online (Robbins Pathology) (Kindle Locations 33411-33412). Elsevier Health. Kindle Edition.

匿名

検索

案内

案内

HPFH