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Primary polycythemia is the overproduction of red blood cells due to a primary process in the bone marrow (a so-called myeloproliferative disease). These can be familial or congenital, or acquired later in life. [12] Secondary polycythemia is the most common cause of polycythemia.
In oncology, polycythemia vera (PV) is an uncommon myeloproliferative neoplasm in which the bone marrow makes too many red blood cells. [1] The majority of cases [2] are caused by mutations in the JAK2 gene, most commonly resulting in a single amino acid change in its protein product from valine to phenylalanine at position 617.
This is an incomplete list, which may never be able to satisfy certain standards for completion.. There are many conditions of or affecting the human hematologic system—the biological system that includes plasma, platelets, leukocytes, and erythrocytes, the major components of blood and the bone marrow.
Hemoglobinopathy is the medical term for a group of inherited blood disorders involving the hemoglobin, the protein of red blood cells. [1] They are single-gene disorders and, in most cases, they are inherited as autosomal co-dominant traits.
Hereditary elliptocytosis, also known as ovalocytosis, is an inherited blood disorder in which an abnormally large number of the person's red blood cells are elliptical rather than the typical biconcave disc shape. Such morphologically distinctive erythrocytes are sometimes referred to as elliptocytes or ovalocytes.
Hemoglobin variants are most often inherited characteristics. First, abnormal beta gene can be inherited in an autosomal recessive fashion. This means that the person who inherits this will have two copies of the altered gene. Both of these genes can be passed to offspring. The next way they can be inherited is in a heterozygous fashion. This ...
Scientific literature sometimes excludes thrombocytosis from the scope of thrombophilia by definition, [4] but practically, by the definition of thrombophilia as an increased predisposition to thrombosis, [5] [6] thrombocytosis (especially primary thrombocytosis) is a potential cause of thrombophilia.
Human genetics is the study of inheritance as it occurs in human beings.Human genetics encompasses a variety of overlapping fields including: classical genetics, cytogenetics, molecular genetics, biochemical genetics, genomics, population genetics, developmental genetics, clinical genetics, and genetic counseling.