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Erythrocytosis, familial, 3

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Description

Familial erythrocytosis is an inherited condition characterized by an increased number of red blood cells (erythrocytes). The primary function of these cells is to carry oxygen from the lungs to tissues and organs throughout the body. Signs and symptoms of familial erythrocytosis can include headaches, dizziness, nosebleeds, and shortness of breath. The excess red blood cells also increase the risk of developing abnormal blood clots that can block the flow of blood through arteries and veins. If these clots restrict blood flow to essential organs and tissues (particularly the heart, lungs, or brain), they can cause life-threatening complications such as a heart attack or stroke. However, many people with familial erythrocytosis experience only mild signs and symptoms or never have any problems related to their extra red blood cells.

MedlinePlus Genetics

  • Mode of Inheritance

  • Autosomal dominant inheritance

VARIANTS

184

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Genes

External Links

  • OMIM

    609820

  • Orphanet
  • HPO
  • Medgen

    C1853286

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