23/04/2024
WHAT IS G6PD?
G6PD deficiency is when the body is missing or doesn’t have enough of an enzyme called G6PD (glucose-6-phosphate dehydrogenase). This enzyme helps red blood cells work correctly. A lack of this enzyme can cause hemolytic anemia. This is when the red blood cells break down faster than they normally would. So instead of circulating for 90 days, the red blood cells are destroyed earlier.
WHAT CAUSES IT?
G6PD deficiency is inherited. It is caused by changes (mutations) to the G6PD gene. The gene is located on the X chromosome and is passed from parents to their children. Boys only get one copy of the X chromosome with the G6PD gene from their mothers, but girls get a copy from their mother and father.
WHO IS AT RISK
G6PD deficiency occurs most often in men. It is rare in women.
The disorder is more common in people of African descent than whites. Ie Africans, Asians, Mediterranean, Middle East.
SYMPTOMS
Symptoms of this condition can appear in newborns. However, most people don't experience symptoms until they encounter certain triggers that can cause the breakdown of red blood cells in the bloodstream, known as hemolysis. These triggers include infections, specific medications, certain foods, and chemicals.
🏨Yellowing of the skin, eyes, and mouth (jaundice): Your skin, eyes, and mouth turn yellow, like ripe plantains or palm oil.
🏨Dark-colored urine: Your urine looks like the color of strong locally brewed tea instead of its usual light color.
🏨Pale skin (paleness may be best seen in the mouth): Your skin looks lighter than usual, especially inside your mouth, like the color of fresh cassava.
🏨Fever: Your body feels hot, like when you have a fever from malaria.
🏨Weakness and extreme tiredness: You feel very tired and have no energy, like after a long day of working on the farm.
🏨Dizziness: You feel like everything is spinning around you, like when you get dizzy from sitting in a hot car.
🏨Trouble with physical activity: You find it hard to do things like walking long distances or carrying heavy loads, like when you're very weak from not eating.
🏨Shortness of breath or fast breathing: You feel like you can't catch your breath after running to catch a tro-tro.
🏨Confusion: You feel like you can't think clearly or understand what's going on, like when you're confused about which path to take in a crowded market.
🏨Enlarged spleen: Your belly feels swollen or bigger than usual, like when you eat too much kenkey and feel bloated.
🏨Increased heart rate: Your heart beats faster than normal, like when you're excited about attending a big celebration.
🏨Heart murmur: You hear a whooshing or swishing sound in your chest when the doctor listens to your heart, like the sound of a stream flowing over rocks.