One subtype of Hemolytic Anemia is G6PD deficiency. This deficiency is linked to the enzyme Glucose-6-P-Dehydrogenase (G6PD), which is part of the metabolism cycle within red blood cells. The anemia associated with this deficiency will occur in a series of episodes, and is sporadic. The deficiency is more commonly seen in people who are from the Mediterranean, but black males are also commonly affected. Therefore, the disease is inherited as an X-lined recessive disorder, with it being passed to males that receive the X gene from their mother.
In this subtype, the person might not go to their doctor with any symptoms until they have an acute episode of hemolytic anemia. During this acute episode, someone with G6PD deficiency can have all of the symptoms common to hemolytic anemia, with jaundice and fatigue being the most common. The person might also complain of a change in their urine to a dark brown color, as red cells are broken down. Other than these symptoms and signs, other signs associated with hemolytic anemia, such as pale skin, and an increased heart rate, known as tachycardia, are apparent.
The crisis associated with G6PD deficiency can be caused by a number of reasons. The most frequent cause exposure to certain medications such as anti-malarial drugs or sulfonamides. Eating fava beans can cause a crisis, which is a common food in the Mediterranean.
Since the condition is part of the subtypes of hemolytic anemia disorder, it will be necessary for a doctor to carry out tests to distinguish it from the other types of anemia that result from hemolysis. A test that might be conducted on someone suspected of having G6PD deficiency include checking their Hematocrit level, and their reticulocyte count.
The hematocrit level will check the amount of red blood cells contained within a certain volume of blood. Another test that might be conducted is a check on the person’s reticulocyte count. The level of reticulocytes, or red blood cells that are immature, will be higher as the body tries to compensate. The doctor might also check the indirect level of bilirubin in the blood, which an increase might indicate an increase in the amount of red blood cells being broken.
However, the most notable features of G6PD deficiency are the presence of “bite cells” and “Heinz bodies.” “Bite cells” are partially hemolyzed red blood cells that look as if “someone has taken a bite out of them,” and “Heinz bodies” refer to denatured hemoglobin appearing as spots within the red blood cells. These are the classic features of G6PD deficiency.
Web Source: Department of Haematology and the London Haemoglobinopathy Discussion Group. “G6PD Deficiency - 2nd edition.” November 2004. Available: https://www.ich.ucl.ac.uk/factsheets/families/F040269/index.html.