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Erythrocytosis, familial, 7(ECYT7)

MedGen UID:
1642594
Concept ID:
C4693823
Disease or Syndrome
Synonyms: ERYTHROCYTOSIS 7; ERYTHROCYTOSIS, ALPHA-GLOBIN TYPE; POLYCYTHEMIA, ALPHA-GLOBIN TYPE
 
Genes (locations): HBA1 (16p13.3); HBA2 (16p13.3)
 
Monarch Initiative: MONDO:0054802
OMIM®: 617981

Definition

Familial erythrocytosis-7 (ECYT7) 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 is usually milder than that caused by a beta chain variant (see 617980). [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

Shen XH, Sun NN, Yin YF, Liu SF, Liu XL, Peng HL, Dai CW, Xu YX, Deng MY, Luo YY, Zheng WL, Zhang GS
Oncotarget 2016 Feb 23;7(8):9550-60. doi: 10.18632/oncotarget.7072. PMID: 26843622Free PMC Article

Recent clinical studies

Etiology

Yesilaltay A, Degirmenci H, Bilgen T, Sirin DY, Bayir D, Degirmenci P, Tekinalp A, Alpsoy S, Okuturlar Y, Turgut B
Medicine (Baltimore) 2022 Aug 12;101(32):e29881. doi: 10.1097/MD.0000000000029881. PMID: 35960118Free PMC Article
Gangat N, Oliveira JL, Hoyer JD, Patnaik MM, Pardanani A, Tefferi A
Am J Hematol 2021 Dec 1;96(12):1647-1654. Epub 2021 Oct 19 doi: 10.1002/ajh.26375. PMID: 34633117
Lewi L
Prenat Diagn 2020 Jun;40(7):766-775. Epub 2020 Apr 27 doi: 10.1002/pd.5705. PMID: 32279339
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
Maddrey WC
Semin Liver Dis 1987 Feb;7(1):32-9. doi: 10.1055/s-2008-1040561. PMID: 3296214

Diagnosis

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
Nordstrom-O'Brien M, van der Luijt RB, van Rooijen E, van den Ouweland AM, Majoor-Krakauer DF, Lolkema MP, van Brussel A, Voest EE, Giles RH
Hum Mutat 2010 May;31(5):521-37. doi: 10.1002/humu.21219. PMID: 20151405
Rumi E
Hematol Oncol 2008 Sep;26(3):131-8. doi: 10.1002/hon.863. PMID: 18484677
Tefferi A, Gilliland DG
Mayo Clin Proc 2005 Jul;80(7):947-58. doi: 10.4065/80.7.947. PMID: 16007902
Maddrey WC
Semin Liver Dis 1987 Feb;7(1):32-9. doi: 10.1055/s-2008-1040561. PMID: 3296214

Therapy

Gangat N, Oliveira JL, Hoyer JD, Patnaik MM, Pardanani A, Tefferi A
Am J Hematol 2021 Dec 1;96(12):1647-1654. Epub 2021 Oct 19 doi: 10.1002/ajh.26375. PMID: 34633117
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
Maddrey WC
Semin Liver Dis 1987 Feb;7(1):32-9. doi: 10.1055/s-2008-1040561. PMID: 3296214
Chambers BR, Bladin PF, McGrath K, Goble AJ
Clin Exp Neurol 1981;18:132-44. PMID: 6926382
Sutton FD Jr, Zwillich CW, Creagh CE, Pierson DJ, Weil JV
Ann Intern Med 1975 Oct;83(4):476-9. doi: 10.7326/0003-4819-83-4-476. PMID: 1101759

Prognosis

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
Kridin K, Zelber-Sagi S, Comaneshter D, Batat E, Cohen AD
J Am Acad Dermatol 2018 Jun;78(6):1084-1089.e1. Epub 2017 Dec 2 doi: 10.1016/j.jaad.2017.11.039. PMID: 29198780
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
Landgren O, Goldin LR, Kristinsson SY, Helgadottir EA, Samuelsson J, Björkholm M
Blood 2008 Sep 15;112(6):2199-204. Epub 2008 May 1 doi: 10.1182/blood-2008-03-143602. PMID: 18451307Free PMC Article

Clinical prediction guides

Figg WD Jr, Fiorini G, Chowdhury R, Nakashima Y, Tumber A, McDonough MA, Schofield CJ
Proteins 2023 Nov;91(11):1510-1524. Epub 2023 Jul 14 doi: 10.1002/prot.26541. PMID: 37449559Free PMC Article
Yesilaltay A, Degirmenci H, Bilgen T, Sirin DY, Bayir D, Degirmenci P, Tekinalp A, Alpsoy S, Okuturlar Y, Turgut B
Medicine (Baltimore) 2022 Aug 12;101(32):e29881. doi: 10.1097/MD.0000000000029881. PMID: 35960118Free 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
Szalat A, Oleinikov K, Nahmias A, Meiner V, Ben-Haim S, Atlan K, Lev-Cohain N, Appelbaum L, Gomori M, Mazeh H, Khalaileh A, Pe'er J, Lossos A, Shoshan Y, Grozinsky-Glasberg S, Gross DJ
Endocr Pract 2020 Oct;26(10):1131-1142. doi: 10.4158/EP-2020-0220. PMID: 33471715
Rumi E
Hematol Oncol 2008 Sep;26(3):131-8. doi: 10.1002/hon.863. PMID: 18484677

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