MCID: ERY064
MIFTS: 11

Erythrocytosis, Familial, 6

Categories: Genetic diseases, Rare diseases, Blood diseases

Aliases & Classifications for Erythrocytosis, Familial, 6

MalaCards integrated aliases for Erythrocytosis, Familial, 6:

Name: Erythrocytosis, Familial, 6 57
Erythrocytosis, Beta-Globin Type 57
Polycythemia, Beta-Globin Type 57
Ecyt6 57

Classifications:



External Ids:

OMIM 57 617980

Summaries for Erythrocytosis, Familial, 6

OMIM : 57 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).

Related Diseases for Erythrocytosis, Familial, 6

Symptoms & Phenotypes for Erythrocytosis, Familial, 6

Clinical features from OMIM:

617980

Drugs & Therapeutics for Erythrocytosis, Familial, 6

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GO Terms for Erythrocytosis, Familial, 6

Sources for Erythrocytosis, Familial, 6

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