Familial polycythemia?

summary

Because of the change of amino acid composition of hemoglobin, the affinity of hemoglobin to oxygen is increased, and the oxygen released to tissues is reduced. Tissue hypoxia causes compensatory polycythemia. This disease is a hereditary disease, so it is also called "familial polycythemia", but not all familial polycythemia are caused by abnormal hemoglobin. Familial polycythemia? Let's talk about it

Familial polycythemia?

Ocular conjunctival membrane, lips, face and extremities end hyperemia, there may be swelling, dizziness, headache, insomnia, irritability, numbness and other symptoms, but the symptoms of most patients are not obvious. Splenomegaly is not common. Abortion or stillbirth may occur during pregnancy.

The hemogram showed only excessive proliferation of red blood cell line, hemoglobin over 200g / L and increased blood volume. Leukocytes and platelets were normal. There are the same patients in the family. The concentration of hemoglobin in peripheral blood can be normal or increased in varying degrees, even up to 238G / L, hematocrit 0.42-0.70. The white blood cell and platelet count were normal.

This disease is autosomal dominant. The mutation of globin gene caused the change of amino acid composition of globin chain. A few patients have no family history, which may be caused by spontaneous somatic gene mutation. All patients were heterozygous. At present, more than 40 kinds of abnormal hemoglobin with increased oxygen affinity have been found.

matters needing attention

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