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While progress in gene therapy for red-green color blindness has slowed since then, successful human trials are currently underway for achromatopsia, a different form of color vision deficiency. Congenital color vision deficiency affects over 200 million people worldwide, highlighting the significant demand for effective gene therapies ...
Congenital dyserythropoietic anemia (CDA) is a rare blood disorder, similar to the thalassemias.CDA is one of many types of anemia, characterized by ineffective erythropoiesis, and resulting from a decrease in the number of red blood cells (RBCs) in the body and a less than normal quantity of hemoglobin in the blood. [2]
Methylenetetrahydrofolate reductase deficiency is the most common genetic cause of elevated serum levels of homocysteine (hyperhomocysteinemia). It is caused by genetic defects in MTHFR, which is an important enzyme in the methyl cycle. [1] Common variants of MTHFR deficiency are asymptomatic and have only minor effects on disease risk. [2]
Color blindness affects a large number of individuals, with protans and deutans being the most common types. [36] In individuals with Northern European ancestry, as many as 8 percent of men and 0.4 percent of women experience congenital color deficiency. [68] [69] Interestingly, even Dalton's first paper already arrived upon this 8% number: [70]
Main symptoms that may appear in anemia [20] The hand of a person with severe anemia (on the left, with ring) compared to one without (on the right). A person with anemia may not have any symptoms, depending on the underlying cause, and no symptoms may be noticed, as the anemia is initially mild, and then the symptoms become worse as the anemia worsens.
Neutropenia – a type of leukopenia, with a specific deficiency in neutrophils [2] Thrombocytopenia – a deficiency of platelets; Pancytopenia – when all three types of blood cells; red blood cells, white blood cells, and platelets, are all deficient. This is a life-threatening disorder that is a characteristic of aplastic anemia. [3]
Hypochromic anemia is a generic term for any type of anemia in which the red blood cells are paler than normal. ( Hypo - refers to less , and chromic means colour .) A normal red blood cell has a biconcave disk shape and will have an area of pallor in its center when viewed microscopically.
Despite much recent improvement in Gene therapy for color blindness, there is currently no FDA approved treatment for congenital red–green color blindness, and otherwise no cure exists. Management of the condition through the use of color blind glasses to alleviate symptoms or smartphone apps to aid with daily tasks is possible. [citation needed]