Here I 🎁 present: “Familial Erythrocytosis-6“, Victor McKusick, Mendelian Inheritance in Man’, 1966. (ECYT6) icd10=D75.0
Familial Erythrocytosis-6 (ECYT6) is an inherited blood disorder characterized by an overproduction of red blood cells (erythrocytosis). It is primarily caused by specific genetic mutations that increase the “oxygen affinity” of hemoglobin, meaning the hemoglobin binds oxygen too tightly and doesn’t release it easily to the body’s tissues.
Key Characteristics
Genetic Cause: It is typically caused by a heterozygous mutation in the HBB gene (located on cytoband 11p15.4), which provides instructions for making the beta-globin protein.
Inheritance: The condition follows an autosomal dominant pattern, meaning only one copy of the mutated gene from one parent is needed to inherit the disorder.
Mechanism: Because the mutant hemoglobin holds onto oxygen more tightly, the body senses a lack of oxygen in peripheral tissues. In response, it produces more red blood cells to compensate, leading to elevated hemoglobin and hematocrit levels.
