The lack of an enzyme called G6PDD leads to the development of Glucose-6-phosphate dehydrogenase deficiency in human beings. It is an X chromosome linked hereditary ailment that is recessive. It is considered the most prevalent enzyme deficiency ailment. People from various races and ethnicity can fall prey to this disease. Most of the patients of the disease are men as it has an X linked prototype of inheritance.
Causes of Glucose-6-Phosphate Dehydrogenase Deficiency
The G6PDD is a metabolic enzyme that plays important role in the metabolism of the red blood cells. The persons affected by the ailment possess abysmally low amount of the enzyme in their body. People affected by Glucose-6-phosphate dehydrogenase deficiency suffer from the chance of hemolytic anemia in conditions of oxidative stress. This can happen when the person undergoes major infection, some foods or medication. A typical food containing high levels of oxidants is Broad beans, eating which can trigger the ailment.
Symptoms of Glucose-6-Phosphate Dehydrogenase Deficiency
There are many ways in which the Glucose-6-phosphate dehydrogenase deficiency manifests itself. A person suffering from the disease can develop prolonged neonatal jaundice. He may develop it in reaction to some drugs. Some foods like broad beans can also cause this disease. When the people belonging to some ethnic groups develop jaundice, anemia as well as the symptoms of hemolysis, the diagnosis of this disease is required. This becomes even more imperative when there is instance of it in the family.
The required tests comprise of reticulocyte count and complete blood count. Liver enzyme test also needs to be performed. If the doctors find adequate reasons to suspect an occurrence of G6PDD, the Beutler fluorescent spot test is conducted. Other types of examinations include sequencing of the gene and direct DNA testing. The Beutler fluorescent spot test is an inexpensive and quick test that can visually detect NADPH created by the gene G6PDD in UV ray. If the blood spot does not shine, the result of the test is considered positive. When the patients have spent 2-3 weeks after the hemolytic episode, this test can be conducted.
One unique after effect of this disease is that the people suffering from it develop resistance in their body to ward off malaria. To be more specific, it helps in resisting the most dangerous variant of malaria named Plasmodium falciparum.
The shortfall of G6PDD in the substitute pathway results in the accumulation of glucose and this triggers an increase of AGE or advanced glycation end products. The shortage also results in a decrease of NADPH. This element is required for the generation of Nitric Oxide.
The frequent occurrence of hypertension and diabetes mellitus type 2 in the western nations is also suspected to be linked directly with G6PDD deficit. However, according to the epidemiological reports, the gene can reduce the vulnerability to cancer, stroke and cardiovascular disease in a person.
Types of Glucose-6-Phosphate Dehydrogenase Deficiency
This disease can be broadly categorized into 4 types. They are severe deficiency, Non-deficient variant, mild deficiency and hereditary nonspherocytic hemolytic anemia.
Treatments of Glucose-6-Phosphate Dehydrogenase Deficiency
The vital aspect of the treatment of Glucose-6-phosphate dehydrogenase deficiency is avoiding drugs as well as foods that can bring hemolysis. In some cases, the immunization against certain pathogens such as hepatitis A can resist infection related attacks of the disease.
When a patient has reached the severe stage of hemolysis, he might require blood transfusion. If the disease leads to acute renal failure, kidney dialysis may be needed. However, blood transfusion helps in most cases, as the newly transfused cells are usually not deficient in G6PDD.
In some cases, the patients have found relief after elimination of the spleen. It is a significant place of red cell demolition. Folic acid can be implemented. Even though selenium and Vitamin E contain antioxidant properties their employment has not been found to be effective in reducing the onslaught of G6PDD.
