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Erythrocytosis, familial, 6(ECYT6)

MedGen UID:
1634191
•Concept ID:
C4693822
•
Disease or Syndrome
Synonyms: ERYTHROCYTOSIS, BETA-GLOBIN TYPE; POLYCYTHEMIA, BETA-GLOBIN TYPE
 
Gene (location): HBB (11p15.4)
 
Monarch Initiative: MONDO:0054801
OMIM®: 617980

Definition

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. [from OMIM]

Clinical features

From HPO
Polycythemia
MedGen UID:
18552
•Concept ID:
C0032461
•
Disease or Syndrome
Polycythemia is diagnosed if the red blood cell count, the hemoglobin level, and the red blood cell volume all exceed the upper limits of normal.
See: Feature record | Search on this feature
Increased hematocrit
MedGen UID:
68692
•Concept ID:
C0239935
•
Finding
An elevation above the normal ratio of the volume of red blood cells to the total volume of blood.
See: Feature record | Search on this feature
Increased circulating hemoglobin concentration
MedGen UID:
108199
•Concept ID:
C0549448
•
Finding
Concentration of hemoglobin in the blood circulation above the upper limit of normal.
See: Feature record | Search on this feature

Professional guidelines

PubMed

JAK2 unmutated erythrocytosis: 2023 Update on diagnosis and management.
Gangat N, Szuber N, Tefferi A
Am J Hematol 2023 Jun;98(6):965-981. Epub 2023 Apr 3 doi: 10.1002/ajh.26920. PMID: 36966432
Management of Myeloproliferative Neoplasms (MPNs).
Nurgat Z, Lawrence M
J Oncol Pharm Pract 2022 Sep;28(6):1400-1410. Epub 2022 Mar 16 doi: 10.1177/10781552221082293. PMID: 35296179
Clinical utility gene card for: familial polycythaemia vera.
Hussein K, Granot G, Shpilberg O, Kreipe H
Eur J Hum Genet 2013 Jun;21(6) Epub 2012 Oct 3 doi: 10.1038/ejhg.2012.216. PMID: 23032109Free PMC Article

Recent clinical studies

Etiology

Association between polycythemia and risk of ischemic stroke in males based on the national health insurance service-health screening cohort.
You HS, Shin SJ, Kim J, Kang HT
Expert Rev Hematol 2023 Jul-Dec;16(7):553-559. Epub 2023 May 31 doi: 10.1080/17474086.2023.2218610. PMID: 37249134
Ruxolitinib Versus Best Available Therapy for Polycythemia Vera Intolerant or Resistant to Hydroxycarbamide in a Randomized Trial.
Harrison CN, Nangalia J, Boucher R, Jackson A, Yap C, O'Sullivan J, Fox S, Ailts I, Dueck AC, Geyer HL, Mesa RA, Dunn WG, Nadezhdin E, Curto-Garcia N, Green A, Wilkins B, Coppell J, Laurie J, Garg M, Ewing J, Knapper S, Crowe J, Chen F, Koutsavlis I, Godfrey A, Arami S, Drummond M, Byrne J, Clark F, Mead-Harvey C, Baxter EJ, McMullin MF, Mead AJ
J Clin Oncol 2023 Jul 1;41(19):3534-3544. Epub 2023 May 1 doi: 10.1200/JCO.22.01935. PMID: 37126762Free PMC Article
JAK2 unmutated erythrocytosis: 2023 Update on diagnosis and management.
Gangat N, Szuber N, Tefferi A
Am J Hematol 2023 Jun;98(6):965-981. Epub 2023 Apr 3 doi: 10.1002/ajh.26920. PMID: 36966432
Erythrocytosis: genes and pathways involved in disease development.
Gašperšič J, Kristan A, Kunej T, Zupan IP, Debeljak N
Blood Transfus 2021 Nov;19(6):518-532. Epub 2020 Dec 16 doi: 10.2450/2020.0197-20. PMID: 33370224Free PMC Article
Thrombocytosis in children.
Chiarello P, Magnolia M, Rubino M, Liguori SA, Miniero R
Minerva Pediatr 2011 Dec;63(6):507-13. PMID: 22075805

Diagnosis

Association between polycythemia and risk of ischemic stroke in males based on the national health insurance service-health screening cohort.
You HS, Shin SJ, Kim J, Kang HT
Expert Rev Hematol 2023 Jul-Dec;16(7):553-559. Epub 2023 May 31 doi: 10.1080/17474086.2023.2218610. PMID: 37249134
JAK2 unmutated erythrocytosis: 2023 Update on diagnosis and management.
Gangat N, Szuber N, Tefferi A
Am J Hematol 2023 Jun;98(6):965-981. Epub 2023 Apr 3 doi: 10.1002/ajh.26920. PMID: 36966432
Polycythemia vera as a rare cause of hypertension in a young man.
Vetluzhskaya M, Abramova A, Oganesyan K, Podzolkov V
BMJ Case Rep 2021 Jun 23;14(6) doi: 10.1136/bcr-2021-242008. PMID: 34162611Free PMC Article
Erythrocytosis: genes and pathways involved in disease development.
Gašperšič J, Kristan A, Kunej T, Zupan IP, Debeljak N
Blood Transfus 2021 Nov;19(6):518-532. Epub 2020 Dec 16 doi: 10.2450/2020.0197-20. PMID: 33370224Free PMC Article
Thrombocytosis in children.
Chiarello P, Magnolia M, Rubino M, Liguori SA, Miniero R
Minerva Pediatr 2011 Dec;63(6):507-13. PMID: 22075805

Therapy

Ruxolitinib Versus Best Available Therapy for Polycythemia Vera Intolerant or Resistant to Hydroxycarbamide in a Randomized Trial.
Harrison CN, Nangalia J, Boucher R, Jackson A, Yap C, O'Sullivan J, Fox S, Ailts I, Dueck AC, Geyer HL, Mesa RA, Dunn WG, Nadezhdin E, Curto-Garcia N, Green A, Wilkins B, Coppell J, Laurie J, Garg M, Ewing J, Knapper S, Crowe J, Chen F, Koutsavlis I, Godfrey A, Arami S, Drummond M, Byrne J, Clark F, Mead-Harvey C, Baxter EJ, McMullin MF, Mead AJ
J Clin Oncol 2023 Jul 1;41(19):3534-3544. Epub 2023 May 1 doi: 10.1200/JCO.22.01935. PMID: 37126762Free PMC Article
JAK2 unmutated erythrocytosis: 2023 Update on diagnosis and management.
Gangat N, Szuber N, Tefferi A
Am J Hematol 2023 Jun;98(6):965-981. Epub 2023 Apr 3 doi: 10.1002/ajh.26920. PMID: 36966432
Vascular Plugging for the Enlarging Pulmonary Arteriovenous Malformation in a Patient With Idiopathic Pulmonary Artery Hypertension.
Liang KW, Huang CY, Jan SL, Wang KY
Can J Cardiol 2018 Jun;34(6):812.e9-812.e11. Epub 2018 Mar 2 doi: 10.1016/j.cjca.2018.02.025. PMID: 29801749
Polycythemia in an infant secondary to granulocyte transfusions.
Adisa O, Hendrickson JE, Hopkins CK, Katzenstein HM, Josephson CD
Pediatr Blood Cancer 2011 Dec 15;57(7):1236-8. Epub 2011 Mar 2 doi: 10.1002/pbc.23080. PMID: 21370438Free PMC Article
Aquagenic pruritus.
Steinman HK, Greaves MW
J Am Acad Dermatol 1985 Jul;13(1):91-6. doi: 10.1016/s0190-9622(85)70149-1. PMID: 2411768

Prognosis

Ruxolitinib Versus Best Available Therapy for Polycythemia Vera Intolerant or Resistant to Hydroxycarbamide in a Randomized Trial.
Harrison CN, Nangalia J, Boucher R, Jackson A, Yap C, O'Sullivan J, Fox S, Ailts I, Dueck AC, Geyer HL, Mesa RA, Dunn WG, Nadezhdin E, Curto-Garcia N, Green A, Wilkins B, Coppell J, Laurie J, Garg M, Ewing J, Knapper S, Crowe J, Chen F, Koutsavlis I, Godfrey A, Arami S, Drummond M, Byrne J, Clark F, Mead-Harvey C, Baxter EJ, McMullin MF, Mead AJ
J Clin Oncol 2023 Jul 1;41(19):3534-3544. Epub 2023 May 1 doi: 10.1200/JCO.22.01935. PMID: 37126762Free PMC Article
Management of Myeloproliferative Neoplasms (MPNs).
Nurgat Z, Lawrence M
J Oncol Pharm Pract 2022 Sep;28(6):1400-1410. Epub 2022 Mar 16 doi: 10.1177/10781552221082293. PMID: 35296179
Familial risk of small intestinal carcinoid and adenocarcinoma.
Kharazmi E, Pukkala E, Sundquist K, Hemminki K
Clin Gastroenterol Hepatol 2013 Aug;11(8):944-9. Epub 2013 Mar 15 doi: 10.1016/j.cgh.2013.02.025. PMID: 23500615
Novel mutations and their functional and clinical relevance in myeloproliferative neoplasms: JAK2, MPL, TET2, ASXL1, CBL, IDH and IKZF1.
Tefferi A
Leukemia 2010 Jun;24(6):1128-38. Epub 2010 Apr 29 doi: 10.1038/leu.2010.69. PMID: 20428194Free PMC Article
Hb Hinwil [beta38(C4)Thr-->Asn, ACC>AAC] associated with beta0-thalassemia in a Sicilian child.
Cuccia L, Saieva L, Borsellino Z, Marocco MR, Ruffo GB, Riou J, Capra M
Hemoglobin 2008;32(6):582-7. doi: 10.1080/03630260802507766. PMID: 19065336

Clinical prediction guides

Ruxolitinib Versus Best Available Therapy for Polycythemia Vera Intolerant or Resistant to Hydroxycarbamide in a Randomized Trial.
Harrison CN, Nangalia J, Boucher R, Jackson A, Yap C, O'Sullivan J, Fox S, Ailts I, Dueck AC, Geyer HL, Mesa RA, Dunn WG, Nadezhdin E, Curto-Garcia N, Green A, Wilkins B, Coppell J, Laurie J, Garg M, Ewing J, Knapper S, Crowe J, Chen F, Koutsavlis I, Godfrey A, Arami S, Drummond M, Byrne J, Clark F, Mead-Harvey C, Baxter EJ, McMullin MF, Mead AJ
J Clin Oncol 2023 Jul 1;41(19):3534-3544. Epub 2023 May 1 doi: 10.1200/JCO.22.01935. PMID: 37126762Free PMC Article
Polycythemia vera as a rare cause of hypertension in a young man.
Vetluzhskaya M, Abramova A, Oganesyan K, Podzolkov V
BMJ Case Rep 2021 Jun 23;14(6) doi: 10.1136/bcr-2021-242008. PMID: 34162611Free PMC Article
Endemic polycythemia in Russia: mutation in the VHL gene.
Ang SO, Chen H, Gordeuk VR, Sergueeva AI, Polyakova LA, Miasnikova GY, Kralovics R, Stockton DW, Prchal JT
Blood Cells Mol Dis 2002 Jan-Feb;28(1):57-62. doi: 10.1006/bcmd.2002.0488. PMID: 11987242
Familial erythrocytosis genetically linked to erythropoietin receptor gene.
de la Chapelle A, Sistonen P, Lehväslaiho H, Ikkala E, Juvonen E
Lancet 1993 Jan 9;341(8837):82-4. doi: 10.1016/0140-6736(93)92558-b. PMID: 8093406
Aquagenic pruritus.
Steinman HK, Greaves MW
J Am Acad Dermatol 1985 Jul;13(1):91-6. doi: 10.1016/s0190-9622(85)70149-1. PMID: 2411768

Recent systematic reviews

Management of Myeloproliferative Neoplasms (MPNs).
Nurgat Z, Lawrence M
J Oncol Pharm Pract 2022 Sep;28(6):1400-1410. Epub 2022 Mar 16 doi: 10.1177/10781552221082293. PMID: 35296179

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