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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.
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.
Increased circulating hemoglobin concentration
MedGen UID:
108199
Concept ID:
C0549448
Finding
Concentration of hemoglobin in the blood circulation above the upper limit of normal.

Professional guidelines

PubMed

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
Nurgat Z, Lawrence M
J Oncol Pharm Pract 2022 Sep;28(6):1400-1410. Epub 2022 Mar 16 doi: 10.1177/10781552221082293. PMID: 35296179
Vannucchi AM, Guglielmelli P
Curr Opin Oncol 2010 Nov;22(6):636-41. doi: 10.1097/CCO.0b013e32833ed81c. PMID: 20805747

Recent clinical studies

Etiology

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
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
Nurgat Z, Lawrence M
J Oncol Pharm Pract 2022 Sep;28(6):1400-1410. Epub 2022 Mar 16 doi: 10.1177/10781552221082293. PMID: 35296179
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
Chiarello P, Magnolia M, Rubino M, Liguori SA, Miniero R
Minerva Pediatr 2011 Dec;63(6):507-13. PMID: 22075805

Diagnosis

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
Cakmak HM, Kartal O, Kocaaga A, Bildirici Y
Pediatr Neonatol 2022 Nov;63(6):613-617. Epub 2022 Aug 6 doi: 10.1016/j.pedneo.2022.06.006. PMID: 36002380
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
Chiarello P, Magnolia M, Rubino M, Liguori SA, Miniero R
Minerva Pediatr 2011 Dec;63(6):507-13. PMID: 22075805
Rumi E
Hematol Oncol 2008 Sep;26(3):131-8. doi: 10.1002/hon.863. PMID: 18484677

Therapy

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
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
Stein BL, Crispino JD, Moliterno AR
Curr Opin Oncol 2011 Nov;23(6):609-16. doi: 10.1097/CCO.0b013e32834d1b22. PMID: 21993415
Steinman HK, Greaves MW
J Am Acad Dermatol 1985 Jul;13(1):91-6. doi: 10.1016/s0190-9622(85)70149-1. PMID: 2411768
Smith BD, La Celle PL
Prog Hemost Thromb 1982;6:179-201. PMID: 6762612

Prognosis

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
Nurgat Z, Lawrence M
J Oncol Pharm Pract 2022 Sep;28(6):1400-1410. Epub 2022 Mar 16 doi: 10.1177/10781552221082293. PMID: 35296179
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
Erdem E, Karatas A, Kaya C, Dilek M, Yakupoglu YK, Arık N, Akpolat T
Clin Rheumatol 2012 Aug;31(8):1183-6. Epub 2012 May 5 doi: 10.1007/s10067-012-1992-6. PMID: 22562368
Tefferi A
Leukemia 2010 Jun;24(6):1128-38. Epub 2010 Apr 29 doi: 10.1038/leu.2010.69. PMID: 20428194Free PMC Article

Clinical prediction guides

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
Baumeister J, Maié T, Chatain N, Gan L, Weinbergerova B, de Toledo MAS, Eschweiler J, Maurer A, Mayer J, Kubesova B, Racil Z, Schuppert A, Costa I, Koschmieder S, Brümmendorf TH, Gezer D
Ann Hematol 2021 Dec;100(12):2943-2956. Epub 2021 Aug 14 doi: 10.1007/s00277-021-04615-8. PMID: 34390367Free PMC Article
Rumi E
Hematol Oncol 2008 Sep;26(3):131-8. doi: 10.1002/hon.863. PMID: 18484677
Steinman HK, Greaves MW
J Am Acad Dermatol 1985 Jul;13(1):91-6. doi: 10.1016/s0190-9622(85)70149-1. PMID: 2411768
Smith BD, La Celle PL
Prog Hemost Thromb 1982;6:179-201. PMID: 6762612

Recent systematic reviews

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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