G6pd deficiency (Glucose 6 phosphate dehydrogenase deficiency)

G6PD

Glucose-6-phosphate dehydrogenase (G6PD) lack is an acquired enzymatic problem that influences the red platelets. It happens when the body comes up short on satisfactory measure of the G6PD protein, which is fundamental for the ordinary capability of red platelets. This lack can prompt a condition called hemolytic iron deficiency, in which the red platelets are obliterated more rapidly than expected. It is a typical enzymatic problem, especially in populaces where jungle fever is pervasive.

Genetic way for G6PD?

G6PD (glucose-6-phosphate dehydrogenase) deficiency is a genetic disorder that affects the red blood cells. It is caused by mutations in the G6PD gene, which provides instructions for making the glucose-6-phosphate dehydrogenase enzyme. This enzyme plays a crucial role in protecting red blood cells from damage caused by certain chemicals and reactive oxygen species.

G6PD deficiency is inherited in an X-linked recessive manner, which means that the mutated gene is located on the X chromosome. Females have two X chromosomes, while males have one X and one Y chromosome. If a male inherits a mutated G6PD gene on his X chromosome, he will have G6PD deficiency because he does not have a second X chromosome to compensate for the mutation. In females, G6PD deficiency occurs when both X chromosomes have a mutated G6PD gene, or when one X chromosome has a mutated G6PD gene and the other X chromosome has a non-mutated gene.

There are many different mutations in the G6PD gene that can cause G6PD deficiency, and the severity of the deficiency can vary depending on the specific mutation. Genetic testing can be done to identify mutations in the G6PD gene, and this information can be helpful in predicting the severity of G6PD deficiency in an individual. It can also be useful for family members who may be carriers of the mutation and at risk of passing it on to their children.

Sign and symptoms of G6PD deficiency 

Glucose-6-phosphate dehydrogenase (G6PD) deficiency can present with a variety of signs and symptoms, which can vary in severity. Some common symptoms and signs associated with G6PD deficiency include:

1. Hemolytic anemia: G6PD deficiency can cause the destruction of red blood cells at a faster rate than normal, leading to anemia. Symptoms of anemia may include fatigue, weakness, pale skin, and shortness of breath.

2. Jaundice: The rapid breakdown of red blood cells can result in an excess buildup of bilirubin, causing yellowing of the skin and eyes (jaundice).

3. Dark urine: The breakdown of red blood cells can lead to the presence of excess bilirubin in the urine, causing it to appear dark or tea-colored.

4. Enlarged spleen: In some cases, G6PD deficiency can cause enlargement of the spleen (splenomegaly).

5. Fava bean-induced hemolysis: Individuals with G6PD deficiency are particularly susceptible to hemolysis triggered by consuming fava beans or certain medications, resulting in the destruction of red blood cells and the onset of symptoms such as abdominal pain, back pain, and dark urine.

It's important to note that the severity of symptoms can vary widely among individuals with G6PD deficiency, and some people may experience no symptoms at all until they are exposed to certain triggers. If you suspect you or someone you know has G6PD deficiency, it's crucial to consult a healthcare professional for proper diagnosis and guidance.