Hereditary Persistence of Fetal Hemoglobin malady

Wikipedia: Hereditary persistence of fetal hemoglobin (HPFH, BrE: Hereditary persistence of foetal haemoglobin) is...⁴⁴ more...

MalaCards: Hereditary Persistence of Fetal Hemoglobin, also known as fetal hemoglobin quantitative trait locus 1, is related to fetal hemoglobin quantitative trait locus 1 and beta thalassemia. An important gene associated with Hereditary Persistence of Fetal Hemoglobin is HPFH2 (hereditary persistence of fetal hemoglobin, heterocellular, Indian type), and among its related pathways are African trypanosomiasis and Factors involved in megakaryocyte development and platelet production. The compounds aclacinomycin and aclarubicin have been mentioned in the context of this disorder. Affiliated tissues include t cells.

OMIM: 613566

hereditary persistence of fetal hemoglobin 7 16 33 fetal hemoglobin quantitative trait locus 1 43

hereditary persistence of hemoglobin f 16 hpfh 16

Diseases related to hereditary persistence of fetal hemoglobin by text searches and GeneDecks gene sharing:

(show all 33)

id	Related Disease	Score	Top Affiliating Genes
1	fetal hemoglobin quantitative trait locus 1	34.2	HBG1, HBG2
2	beta thalassemia	32.7	HBB, GATA1
3	hemoglobin s beta-thalassemia	30.8	HBG2, HBG1, HBE1, HBD, HBB
4	thalassemia	30.4	GATA1, HBG2, HBG1, HBE1, HBD, HBBP1
5	sickle cell anemia	28.1	HPFH2, HBB, HBBP1, HBD, HBE1, HBG1
6	hpfh	28.0	GATA1, KLF1, HPFH, HPFH2, HBB, HBG1
7	sickle cell disease	27.0	HBG2, HBG1, HBD, HBB, HPFH, FCP1
8	anemia	25.9	GATA1, HBG2, HBG1, HBE1, HBD, HBBP1
9	erythremias, beta-	12.9	HBB, HBBP1
10	methemoglobinemias, beta-	12.9	HBB, HBBP1
11	heinz body anemias, beta-	12.9	HBB, HBBP1
12	thalassemia, delta-	12.9	HBB, HBD
13	thalassemia-beta, dominant inclusion-body	12.9	HBB, HBBP1
14	heinz body anemia	12.8	HBB, HBBP1
15	erythremia	12.8	HBB, HBBP1
16	diamond-blackfan anemia	12.7	HBB, HBE1
17	alpha thalassemia	12.6	HBG1, HBB
18	hemoglobinopathy	12.5	KLF1, HBB, HBG1
19	methemoglobinemia	12.5	HBG2, HBBP1, HBB
20	hydrops fetalis	12.5	HBB, HBE1
21	congenital hemolytic anemia	12.5	HBG2, HBG1, HBB
22	congenital dyserythropoietic anemia	12.2	HBG2, HBB, KLF1
23	hemolytic anemia	12.1	HBB, HBG1, HBG2
24	dyserythropoietic anemia with thrombocytopenia	11.8	KLF1, HBB, HBG2, GATA1
25	hematopoiesis	11.7	GATA1, HBG1, HBB, BCL11A
26	lymphoblastic leukemia	11.1	BCL11A, CUX1, HBG1, HBG2, GATA1
27	myeloid leukemia	10.5	GATA1, POU2F1, HBG1, HBE1, CUX1, BCL11A
28	fetal hemoglobin quantitative trait locus 4	9.8
29	fetal hemoglobin quantitative trait locus 3	9.2
30	leukemia	9.2	GATA1, POU2F1, HBG2, HBG1, HBE1, HBB
31	heterocellular hereditary persistence of fetal hemoglobin	8.8
32	fetal hemoglobin quantitative trait locus 2	6.5
33	fetal hemoglobin qtl5	6.5

Clinical features from OMIM: 613566

Approved drugs:

Drug clinical trials:

Genetic tests related to hereditary persistence of fetal hemoglobin:

id	Genetic test	Affiliating Genes
1	Hereditary Persistence Of Fetal Hemoglobin clinical/research	HBB, HBD

MalaCards organs/tissues related to hereditary persistence of fetal hemoglobin:

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Articles related to hereditary persistence of fetal hemoglobin:

(show all 22)

id	Title	Authors	Year	Affiliating Genes
1	Haploinsufficiency for the erythroid transcription fa ctor KLF1 causes hereditary persistence of fetal hemoglobin. (20676099)	Borg J.... Philipsen S.	2010	KLF1
2	G gamma-196 C-->T, A gamma-201 C-->T: two novel mutations in the promoter region of the gamma-globin genes associated with nondeletional hereditary persistence of fetal hemoglobin in Greece. (18096417)	Tasiopoulou M.... Karababa P.	2008	HBG2, HBG1
3	Compound heterozygosity for the Cretan type of non-deletional hereditary persistence of fetal hemoglobin and beta-thalassemia or Hb Sabine confirms the functional role of the Agamma -158 C>T mutation in gamma-globin gene transcription. (18718799)	Kollia P.... Patrinos G.P.	2008	HBG1
4	Compound heterozygosity of non-deletional hereditary persistence of fetal hemoglobin and deltabeta-thalassemia. (18615450)	Kalamaras A.... Kollia P.	2008	HBG1, HBD
5	Purification and identification of proteins that bind to the hereditary persistence of fetal hemoglobin -198 mutation in the gamma-globin gene promoter. (17114178)	Olave I.A.... Li Q.	2007	HPFH
6	Molecular mechanism of high hemoglobin F production in Southeast Asian-type hereditary persistence of fetal hemoglobin. (16720553)	Changsri K.... Fucharoen S.	2006	HBD
7	Use of the hereditary persistence of fetal hemoglobin 2 enhancer to increase the expression of oncoretrovirus vectors for human gamma-globin. (15944728)	Fragkos M.... Emery D.W.	2005	HBB, HBG1
8	T to C substitution at -175 or -173 of the gamma-globin promoter affects GATA-1 and Oct-1 binding in vitro differently but can independently reproduce the hereditary persistence of fetal hemoglobin phenotype in transgenic mice. (15613485)	Liu L.R.... Zhang J.W.	2005	GATA1, POU2F1, HBG1
9	A novel C-->A transversion within the distal CCAAT motif of the Ggamma-globin gene in the Algerian Ggammabeta+-hereditary persistence of fetal hemoglobin. (10335983)	Zertal-Zidani S.... Krishnamoorthy R.	1999	HBG2
10	Deletion of a region that is a candidate for the difference between the deletion forms of hereditary persistence of fetal hemoglobin and deltabeta-thalassemia affects beta- but not gamma-globin gene expression. (10022837)	Calzolari R.... Grosveld F.	1999	HBB
11	The Cretan type of non-deletional hereditary persistence of fetal hemoglobin [A gamma-158C-->T] results from two independent gene conversion events. (9703422)	Patrinos G.P.... Papadakis M.N.	1998	HBG1
12	Molecular cloning of the breakpoints of the hereditary persistence of fetal hemoglobin type-6 (HPFH-6) deletion and sequence analysis of the novel juxtaposed region from the 3' end of the beta-globin gene cluster. (9272169)	Kosteas T.... Palena A.	1997	HBB, OR51A1P
13	An intramolecular triplex in the human gamma-globin 5'-flanking region is altered by point mutations associated with hereditary persistence of fetal hemoglobin. (7592674)	Bacolla A.... Wells R.D.	1995	HBG1
14	G gamma A gamma (beta+) hereditary persistence of fetal hemoglobin: the G gamma -158 C-->T mutation in cis to the -175 T-->C mutation of the A gamma-globin gene results in increased G gamma-globin synthesis. (7679879)	Coleman M.B.... Winter W.P.	1993	HBG2
15	The Georgia type of nondeletional hereditary persistence of fetal hemoglobin has a C---T mutation at nucleotide-114 of the A gamma-globin gene. (1704803)	Oner R.... Huisman T.H.	1991	HBG1
16	The homozygous state of G to A--117A gamma hereditary persistence of fetal hemoglobin. (2469505)	Camaschella C.... Longinotti M.	1989	HBG1
17	DNA sequences regulating human globin gene transcription in nondeletional hereditary persistence of fetal hemoglobin. (2481658)	Ottolenghi S.... Giglioni B.	1989	CUX1
18	X-linked dominant control of F-cells in normal adult life: characterization of the Swiss type as hereditary persistence of fetal hemoglobin regulated dominantly by gene(s) on X chromosome. (2461753)	Miyoshi K.... Yamano T.	1988	FCP1
19	A frequent A gamma-hereditary persistence of fetal hemoglobin in northern Sardinia: its molecular basis and hematologic phenotype in heterozygotes and compound heterozygotes with beta-thalassemia. (2452784)	Ottolenghi S.... Saglio G.	1988	HBG1
20	Concordance of a point mutation 5' to the A gamma-globin gene with A gamma beta + hereditary persistence of fetal hemoglobin in Greeks. (2417646)	Waber P.G.... Kazazian H.H.	1986	HBG1
21	A molecular study of a family with Greek hereditary persistence of fetal hemoglobin and beta-thalassemia. (6210198)	Giglioni B.... Mazza U.	1984	HBB, HBG2, HBE1
22	Concordance of a point mutation 5' to the G gamma globin gene with G gamma beta +. Hereditary persistence of fetal hemoglobin in the black population. (6208955)	Collins F.S.... Kazazian H.H.	1984	HBG2

Genes related to hereditary persistence of fetal hemoglobin according to GeneCards:

(show all 15)

id	Symbol	Description	Score	GeneCards Section Context
1	HPFH2	hereditary persistence of fetal hemoglobin, heterocellular, Indian type	11.1	Aliases & Descriptions
2	HPFH	hereditary persistence of fetal hemoglobin, heterocellular	11.1	Aliases & Descriptions, Publications
3	BCL11A	B-cell CLL/lymphoma 11A (zinc finger protein)	11.1	UniProt Related
4	FCP1	F-cell production 1	11.0	Publications
5	OR51A1P	olfactory receptor, family 51, subfamily A, member 1 pseudogene	11.0	Publications
6	HBBP1	hemoglobin, beta pseudogene 1	11.0
7	HBG1	hemoglobin, gamma A	11.0	Publications
8	HBD	hemoglobin, delta	11.0	Publications
9	HBE1	hemoglobin, epsilon 1	11.0	Publications
10	KLF1	Kruppel-like factor 1 (erythroid)	11.0	UniProt Related, Publications
11	HBG2	hemoglobin, gamma G	11.0	Publications
12	GATA1	GATA binding protein 1 (globin transcription factor 1)	11.0	Publications
13	HBB	hemoglobin, beta	11.0	Publications
14	POU2F1	POU class 2 homeobox 1	11.0	Publications
15	CUX1	cut-like homeobox 1	11.0	Publications

Pathways related to hereditary persistence of fetal hemoglobin according to GeneDecks:

id	Pathway	Score	Top Affiliating Genes
1	African trypanosomiasis20	9.5	HBB, HBD
2	Factors involved in megakaryocyte development and platelet production38	8.2	HBD, HBE1, HBG1, HBG2, GATA1

Compounds related to hereditary persistence of fetal hemoglobin according to GeneDecks:

(show all 17)

id	Compound	Score	Top Affiliating Genes
1	aclacinomycin32	9.9	GATA1, HBG1
2	aclarubicin32	9.8	HBG1, GATA1
3	de-oxy32	9.7	HBB, HBG2
4	s-nitrosocysteine32	9.7	HBB, HBG2
5	dimethyl sulfate32	9.6	HBB, HBG1
6	benzidine32	9.6	HBB, HBG1
7	23-diphosphoglycerate32	9.6	HBG2, HBB
8	porphobilinogen32 9 18 9	12.3	GATA1, HBG1, HBB
9	5-aminolevulinic acid32 18	10.3	HBB, GATA1, HBG1
10	propionate32	9.2	HBG1, HBB
11	azathioprine32 34 9 9	12.2	HBG1, GATA1, HBB
12	hydroxyurea32 9 9	10.8	GATA1, HBG2, HBG1, HBB
13	glyceraldehyde 3-phosphate32	8.7	HBB, POU2F1, HBG1
14	Heme9 18 9	10.7	HBG1, HBG2, HBB, HBD, HBE1
15	iron32 18	9.5	HBG2, HBB, HBG1, GATA1
16	butyrate32	8.4	HBG1, HBB, POU2F1, GATA1
17	zinc32 18	8.8	HBB, HBG1, POU2F1, GATA1, KLF1

Cellular components related to hereditary persistence of fetal hemoglobin according to GeneDecks:

id	Name	GO ID	Score	Top Affiliating Genes
1	hemoglobin complex	GO:005833	8.4	HBB, HBD, HBE1, HBG1, HBG2

Biological processes related to hereditary persistence of fetal hemoglobin according to GeneDecks:

id	Name	GO ID	Score	Top Affiliating Genes
1	erythrocyte differentiation	GO:030218	9.5	KLF1, GATA1
2	embryonic hemopoiesis	GO:035162	9.2	KLF1, GATA1
3	blood coagulation	GO:007596	7.7	HBB, GATA1, HBG2, HBG1, HBE1, HBD

Molecular functions related to hereditary persistence of fetal hemoglobin according to GeneDecks:

id	Name	GO ID	Score	Top Affiliating Genes
1	oxygen transporter activity	GO:005344	8.4	HBB, HBD, HBE1, HBG1, HBG2
2	iron ion binding	GO:005506	8.4	HBB, HBD, HBE1, HBG1, HBG2
3	oxygen binding	GO:019825	8.3	HBD, HBE1, HBG1, HBG2, HBB
4	heme binding	GO:020037	8.1	HBG2, HBG1, HBE1, HBD, HBB