ECYT6
MCID: ERY064
MIFTS: 19

Erythrocytosis, Familial, 6 (ECYT6)

Categories: Blood diseases, Genetic diseases, Metabolic diseases, Rare diseases

Aliases & Classifications for Erythrocytosis, Familial, 6

MalaCards integrated aliases for Erythrocytosis, Familial, 6:

Name: Erythrocytosis, Familial, 6 58
Erythrocytosis, Beta-Globin Type 58
Polycythemia, Beta-Globin Type 58
Erythrocytosis 6, Familial 6
Erythrocytosis 6 58
Ecyt6 58

Classifications:



External Ids:

OMIM 58 617980

Summaries for Erythrocytosis, Familial, 6

OMIM : 58 Familial erythrocytosis-6 is characterized by an increased oxygen affinity of hemoglobin (Hb), which results in decreased delivery of oxygen into the peripheral tissues and compensatory polycythemia. Patients are generally asymptomatic, as compensatory polycythemia assures normal oxygen tissue delivery. Patients have normal red cell morphology (summary by Kralovics and Prchal, 2000). Wajcman and Galacteros (2005) noted that although high oxygen affinity hemoglobins are usually well tolerated in young patients, they can lead to thrombotic complications in older patients or when they are associated with another cause that increases thrombotic risk. Wajcman and Galacteros (2005) also noted that the effect of increased oxygen affinity of Hb caused by an alpha chain variant (see 617981) is usually milder than that caused by a beta chain variant. (617980)

MalaCards based summary : Erythrocytosis, Familial, 6, is also known as erythrocytosis, beta-globin type. An important gene associated with Erythrocytosis, Familial, 6 is HBB (Hemoglobin Subunit Beta). Affiliated tissues include lung.

Related Diseases for Erythrocytosis, Familial, 6

Symptoms & Phenotypes for Erythrocytosis, Familial, 6

Clinical features from OMIM:

617980

Drugs & Therapeutics for Erythrocytosis, Familial, 6

Search Clinical Trials , NIH Clinical Center for Erythrocytosis, Familial, 6

Genetic Tests for Erythrocytosis, Familial, 6

Anatomical Context for Erythrocytosis, Familial, 6

MalaCards organs/tissues related to Erythrocytosis, Familial, 6:

42
Lung

Publications for Erythrocytosis, Familial, 6

Articles related to Erythrocytosis, Familial, 6:

(show top 50) (show all 76)
# Title Authors Year
1
Hb Rainier [beta145(HC2)Tyr-->Cys] in Italy. Characterization of the amino acid substitution and the DNA mutation. ( 10335979 )
1999
2
Hb Osler [beta 145(HC2)Tyr-->Asp] results from posttranslational modification. ( 9101280 )
1997
3
Compound heterozygosity for two beta chain variants: Hb S [beta 6(A3)Glu-->Val] and the high affinity variant Hb San Diego [beta 109(G11)Val-->Met]. ( 7615400 )
1995
4
Haemoglobin Köln as de novo mutations in Sweden: diagnosis by PCR and specific enzymatic cleavage. ( 8168595 )
1994
5
Hb N-Baltimore or beta 95(Fg2)Lys----Glu in Portugal. ( 2703368 )
1989
6
Hemoglobin Brockton [beta 138 (H16) Ala----Pro]: an unstable variant near the C-terminus of the beta-subunits with normal oxygen-binding properties. ( 3207692 )
1988
7
Hemoglobin Pasadena: identification of the gene mutant by DNA analysis using synthetic DNA probes. ( 3348204 )
1988
8
Hb Linköping (beta 36 Pro----Thr): a new high oxygen affinity hemoglobin variant found in two families of Finnish origin. ( 3691763 )
1987
9
A new case of Hb Little Rock [beta 143(H21)His----Gln], a high affinity variant. Study during pregnancy. ( 3623972 )
1987
10
Hb I-High Wycombe [beta 59(E3)Lys----Glu] in a woman of Malian origin. ( 3114176 )
1987
11
A mouse beta-globin mutant that is an exact model of hemoglobin Rainier in man. ( 3839762 )
1985
12
Hemoglobin Rahere, a human hemoglobin variant with amino acid substitution at the 2,3-diphosphoglycerate binding site. Functional consequences of the alteration and effects of bezafibrate on the oxygen bindings. ( 3930571 )
1985
13
A new case of hemoglobin Providence (alpha 2 beta 2 82 (EF6) Lys----Asn or Asp) discovered in a French Caucasian family. Structural and functional studies. ( 3935609 )
1985
14
Iron overload in three generations of a family with hemoglobin Olympia. ( 6745619 )
1984
15
Structure of deoxyhemoglobin Cowtown [His HC3(146) beta----Leu]: origin of the alkaline Bohr effect and electrostatic interactions in hemoglobin. ( 6589624 )
1984
16
[Erythrocytosis due to a high-affinity hemoglobulin: mutant hemoglobin Saint-Jacques beta 140 (H18) Ala----Thr with a change in the 2,3-diphosphoglycerate binding site]. ( 6546989 )
1984
17
Asymmetric hybrids formed with hemoglobin British Columbia (alpha 2 beta 2101Glu----Lys). ( 6500987 )
1984
18
Hb Brisbane (beta 68 (E12) Leu replaced by His) is unstable. ( 6629830 )
1983
19
Characterization and properties of Hb York (beta 146 His leads to Pro). ( 6874372 )
1983
20
Hemoglobin Palmerston North beta 23 (B5) Val replaced by Phe. A new variant identified in a patient with polycythemia. ( 7161106 )
1982
21
Structural and functional studies of hemoglobin Barcelona (alpha 2 beta 2 94 Asp (FG1) replaced by His). Consequences of altering an important intrachain salt bridge involved in the alkaline Bohr effect. ( 7097767 )
1982
22
Hemoglobin Osler: report of a new family with exercise studies before and after phlebotomy. ( 7158624 )
1982
23
Hemoglobin Brisbane: beta68 Leu replaced by His. A new high oxygen affinity variant. ( 6166590 )
1981
24
Hemoglobin Hotel-Dieu beta 99 Asp replaced by Gly (g1). A new abnormal hemoglobin with high oxygen affinity. ( 7204092 )
1981
25
Novel studies on a "silent" high affinity mutant hemoglobin (San Diego, beta 109 Val replaced by Met). ( 7204093 )
1981
26
Hemoglobin Pitie-Salpetriere beta 34 (B16) Val replaced by Phe. A new high oxygen affinity variant associated with familial erythrocytosis. ( 7417488 )
1980
27
Hemoglobin Creteil: oxygen transport by erythrocytes. In-vitro and in-vivo studies in a high oxygen-affinity mutant hemoglobin. ( 27132 )
1978
28
Human llamas: adaptation to altitude in subjects with high hemoglobin oxygen affinity. ( 29054 )
1978
29
A second patient with hemoglobin Alberta, a high-oxygen-affinity variant causing erythrocytosis and forming asymmetric tetramers. ( 750556 )
1978
30
Haemoglobin Vanderbilt (alpha2beta289Ser leads to Arg): a new haemoglobin with high oxygen affinity and compensatory erythrocytosis. ( 678476 )
1978
31
Hemoglobin Ty GARD (alphaA2beta2 124 (H2) Pro replaced by Gln). A stable high O2 affinity variant at the alpha1beta1 contact. ( 639985 )
1978
32
Hb Potomac (101 Glu replaced by Asp): speculations on placental oxygen transport in carriers of high-affinity hemoglobins. ( 563749 )
1978
33
Isoelectric focusing studies of a "stable" asymmetrical hybrid formed with a new hemoglobin variant, hemoglobin alberta (alpha2beta2101(G3)Glu leads to Gly). ( 903694 )
1977
34
Hemoglobin Raleigh (beta1 valine replaced by acetylalanine). Structural and functional characterization. ( 20942 )
1977
35
Postsynthetic deamidation of hemoglobin Providence (beta 82 Lys replaced by Asn, Asp) and its effect on oxygen transport. ( 14973 )
1977
36
Hemoglobin McKees Rocks (alpha2beta2145Tyr leads to Term). A human "nonsense" mutation leading to a shortened beta-chain. ( 1249207 )
1976
37
Hb Helsinki: a variant with a high oxygen affinity and a substitution at a 2,3-DPG binding site (beta82[EF6] Lys replaced by Met). ( 826083 )
1976
38
Hemoglobin British Columbia (alpha2beta2 101(G3)Glu replaced by Lys). A new variant with high oxygen affinity. ( 1052179 )
1976
39
Hemoglobin Bethesda, beta 145 (HC2) Tyr replaced by His, in a Canadian family. ( 949044 )
1976
40
Hb-Alberta or alpha2beta2 (101(G3) Glu replaced by Gly), a new high-oxygen-affinity hemoglobin variant causing erythrocytosis. ( 1052180 )
1976
41
Altered C-terminal salt bridges in haemoglobin York cause high oxygen affinity. ( 1246355 )
1976
42
Polycythemia produced by hemoglobin Osler (beta-145 (HC2) Tyr yields Asp). ( 1117598 )
1975
43
Hemoglobin Wood beta97(FG4) His replaced by Leu. A new high-oxygen-affinity hemoglobin associated with familial erythrocytosis. ( 1164511 )
1975
44
Structural and functional study of Hb Nancy beta 145 (HC 2) Tyr replaced by Asp. A high oxygen affinity hemoglobin. ( 239863 )
1975
45
Hemoglobin Fort Gordon or alpha2beta2145 Tyr replaced by Asp, a new high-oxygen-affinity hemoglobin variant. ( 1164510 )
1975
46
Hemoglobin Syracuse (alpha2beta2-143(H21)His leads to Pro), a new high-affinity variant detected by special electrophoretic methods. Observations on the auto-oxidation of normal and variant hemoglobins. ( 234980 )
1975
47
Haemoglobin Rahere (beta Lys-Thr): A new high affinity haemoglobin associated with decreased 2, 3-diphosphoglycerate binding and relative polycythaemia. ( 124 )
1975
48
Hemoglobin Andrew-Minneapolis alpha 2 A beta 2 144 Lys leads to Asn: a new high-oxygen-affinity mutant human hemoglobin. ( 4413656 )
1974
49
Hemoglobinopathic erythrocytosis due to a new electrophoretically silent variant, hemoglobin San Diego (beta109 (G11)val--met). ( 4808644 )
1974
50
Hemoglobin brigham (alpha2Abeta2100 Pro--Leu). Hemoglobin variant associated with familial erythrocytosis. ( 4719677 )
1973

Variations for Erythrocytosis, Familial, 6

ClinVar genetic disease variations for Erythrocytosis, Familial, 6:

6 (show top 50) (show all 94)
# Gene Variation Type Significance SNP ID Assembly Location
1 HBB NM_000518.4(HBB): c.302C> T (p.Pro101Leu) single nucleotide variant Pathogenic rs33965000 GRCh37 Chromosome 11, 5247820: 5247820
2 HBB NM_000518.4(HBB): c.302C> T (p.Pro101Leu) single nucleotide variant Pathogenic rs33965000 GRCh38 Chromosome 11, 5226590: 5226590
3 HBB NM_000518.4(HBB): c.206T> A (p.Leu69His) single nucleotide variant Pathogenic rs33972593 GRCh37 Chromosome 11, 5247916: 5247916
4 HBB NM_000518.5(HBB): c.305A> G (p.Glu102Gly) single nucleotide variant Pathogenic rs33937393 GRCh37 Chromosome 11, 5247817: 5247817
5 HBB NM_000518.5(HBB): c.305A> G (p.Glu102Gly) single nucleotide variant Pathogenic rs33937393 GRCh38 Chromosome 11, 5226587: 5226587
6 HBB NM_000518.5(HBB): c.435G> C (p.Lys145Asn) single nucleotide variant Pathogenic rs35020585 GRCh37 Chromosome 11, 5246837: 5246837
7 HBB NM_000518.5(HBB): c.435G> C (p.Lys145Asn) single nucleotide variant Pathogenic rs35020585 GRCh38 Chromosome 11, 5225607: 5225607
8 HBB NM_000518.4(HBB): c.283G> C (p.Asp95His) single nucleotide variant Pathogenic rs33959340 GRCh37 Chromosome 11, 5247839: 5247839
9 HBB NM_000518.4(HBB): c.283G> C (p.Asp95His) single nucleotide variant Pathogenic rs33959340 GRCh38 Chromosome 11, 5226609: 5226609
10 HBB NM_000518.5(HBB): c.436T> C (p.Tyr146His) single nucleotide variant Pathogenic rs33949869 GRCh37 Chromosome 11, 5246836: 5246836
11 HBB NM_000518.5(HBB): c.436T> C (p.Tyr146His) single nucleotide variant Pathogenic rs33949869 GRCh38 Chromosome 11, 5225606: 5225606
12 HBB NM_000518.4(HBB): c.206T> A (p.Leu69His) single nucleotide variant Pathogenic rs33972593 GRCh38 Chromosome 11, 5226686: 5226686
13 HBB NM_000518.4(HBB): c.304G> A (p.Glu102Lys) single nucleotide variant Pathogenic rs33966487 GRCh37 Chromosome 11, 5247818: 5247818
14 HBB NM_000518.4(HBB): c.304G> A (p.Glu102Lys) single nucleotide variant Pathogenic rs33966487 GRCh38 Chromosome 11, 5226588: 5226588
15 HBB NM_000518.4(HBB): c.299A> T (p.Asp100Val) single nucleotide variant Pathogenic rs33971048 GRCh37 Chromosome 11, 5247823: 5247823
16 HBB NM_000518.4(HBB): c.299A> T (p.Asp100Val) single nucleotide variant Pathogenic rs33971048 GRCh38 Chromosome 11, 5226593: 5226593
17 HBB NM_000518.4(HBB): c.440A> T (p.His147Leu) single nucleotide variant Pathogenic rs33954264 GRCh37 Chromosome 11, 5246832: 5246832
18 HBB NM_000518.4(HBB): c.440A> T (p.His147Leu) single nucleotide variant Pathogenic rs33954264 GRCh38 Chromosome 11, 5225602: 5225602
19 HBB NM_000518.4(HBB): c.269G> A (p.Ser90Asn) single nucleotide variant Pathogenic rs33917628 GRCh37 Chromosome 11, 5247853: 5247853
20 HBB NM_000518.4(HBB): c.269G> A (p.Ser90Asn) single nucleotide variant Pathogenic rs33917628 GRCh38 Chromosome 11, 5226623: 5226623
21 HBB NM_000518.5(HBB): c.312C> G (p.Phe104Leu) single nucleotide variant Pathogenic rs35067717 GRCh37 Chromosome 11, 5247810: 5247810
22 HBB NM_000518.5(HBB): c.312C> G (p.Phe104Leu) single nucleotide variant Pathogenic rs35067717 GRCh38 Chromosome 11, 5226580: 5226580
23 HBB NM_000518.4(HBB): c.248A> T (p.Lys83Met) single nucleotide variant Pathogenic rs33987903 GRCh37 Chromosome 11, 5247874: 5247874
24 HBB NM_000518.4(HBB): c.248A> T (p.Lys83Met) single nucleotide variant Pathogenic rs33987903 GRCh38 Chromosome 11, 5226644: 5226644
25 HBB NM_000518.4(HBB): c.439C> G (p.His147Asp) single nucleotide variant Pathogenic rs33961444 GRCh37 Chromosome 11, 5246833: 5246833
26 HBB NM_000518.4(HBB): c.439C> G (p.His147Asp) single nucleotide variant Pathogenic rs33961444 GRCh38 Chromosome 11, 5225603: 5225603
27 HBB NM_000518.4(HBB): c.299A> G (p.Asp100Gly) single nucleotide variant Pathogenic rs33971048 GRCh37 Chromosome 11, 5247823: 5247823
28 HBB NM_000518.4(HBB): c.299A> G (p.Asp100Gly) single nucleotide variant Pathogenic rs33971048 GRCh38 Chromosome 11, 5226593: 5226593
29 HBB NM_000518.4(HBB): c.298G> A (p.Asp100Asn) single nucleotide variant Pathogenic rs33954595 GRCh37 Chromosome 11, 5247824: 5247824
30 HBB NM_000518.4(HBB): c.298G> A (p.Asp100Asn) single nucleotide variant Pathogenic rs33954595 GRCh38 Chromosome 11, 5226594: 5226594
31 HBB HBB, HIS143GLN undetermined variant Pathogenic
32 HBB NP_000509.1: p.His98Gln single nucleotide variant Pathogenic rs34515413 GRCh37 Chromosome 11, 5247828: 5247828
33 HBB NP_000509.1: p.His98Gln single nucleotide variant Pathogenic rs34515413 GRCh38 Chromosome 11, 5226598: 5226598
34 HBB NM_000518.5(HBB): c.438T> A (p.Tyr146Ter) single nucleotide variant Pathogenic rs35291591 GRCh37 Chromosome 11, 5246834: 5246834
35 HBB NM_000518.5(HBB): c.438T> A (p.Tyr146Ter) single nucleotide variant Pathogenic rs35291591 GRCh38 Chromosome 11, 5225604: 5225604
36 HBB NM_000518.4(HBB): c.428C> A (p.Ala143Asp) single nucleotide variant Pathogenic rs33921821 GRCh37 Chromosome 11, 5246844: 5246844
37 HBB NM_000518.4(HBB): c.428C> A (p.Ala143Asp) single nucleotide variant Pathogenic rs33921821 GRCh38 Chromosome 11, 5225614: 5225614
38 HBB NM_000518.5(HBB): c.61G> A (p.Val21Met) single nucleotide variant Pathogenic rs35890959 GRCh37 Chromosome 11, 5248191: 5248191
39 HBB NM_000518.5(HBB): c.61G> A (p.Val21Met) single nucleotide variant Pathogenic rs35890959 GRCh38 Chromosome 11, 5226961: 5226961
40 HBB HBB, TYR145ASN-TO-ASP single nucleotide variant Pathogenic
41 HBB NM_000518.4(HBB): c.70G> T (p.Val24Phe) single nucleotide variant Pathogenic rs33929459 GRCh37 Chromosome 11, 5248182: 5248182
42 HBB NM_000518.4(HBB): c.70G> T (p.Val24Phe) single nucleotide variant Pathogenic rs33929459 GRCh38 Chromosome 11, 5226952: 5226952
43 HBB NM_000518.5(HBB): c.103G> T (p.Val35Phe) single nucleotide variant Pathogenic rs1141387 GRCh37 Chromosome 11, 5248019: 5248019
44 HBB NM_000518.5(HBB): c.103G> T (p.Val35Phe) single nucleotide variant Pathogenic rs1141387 GRCh38 Chromosome 11, 5226789: 5226789
45 HBB NM_000518.4(HBB): c.299A> C (p.Asp100Ala) single nucleotide variant Pathogenic rs33971048 GRCh37 Chromosome 11, 5247823: 5247823
46 HBB NM_000518.4(HBB): c.299A> C (p.Asp100Ala) single nucleotide variant Pathogenic rs33971048 GRCh38 Chromosome 11, 5226593: 5226593
47 HBB NM_000518.5(HBB): c.306G> C (p.Glu102Asp) single nucleotide variant Pathogenic rs35209591 GRCh37 Chromosome 11, 5247816: 5247816
48 HBB NM_000518.5(HBB): c.306G> C (p.Glu102Asp) single nucleotide variant Pathogenic rs35209591 GRCh38 Chromosome 11, 5226586: 5226586
49 HBB NM_000518.4(HBB): c.249G> Y (p.Lys83Asn) single nucleotide variant Pathogenic rs33991993 GRCh37 Chromosome 11, 5247873: 5247873
50 HBB NM_000518.4(HBB): c.249G> Y (p.Lys83Asn) single nucleotide variant Pathogenic rs33991993 GRCh38 Chromosome 11, 5226643: 5226643

Expression for Erythrocytosis, Familial, 6

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Pathways for Erythrocytosis, Familial, 6

GO Terms for Erythrocytosis, Familial, 6

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