Glucose 6 Phosphate Dehydrogenase Deficiency Anemia

G6PD deficiency is an X-linked recessive disorder. It is when the body doesn't have enough of an enzyme called G6PD (glucose-6-phosphate dehydrogenase). This enzyme helps red blood cells work properly. A lack of this enzyme can cause hemolytic anemia. This is when the red blood cells break down faster than they are made. It is affecting 10-15% of males, female carriers are rarely affected.

Symptoms

• anemia
• extreme tiredness or dizziness.
• fast heartbeat
• shortness of breath
• jaundice (the skin and eyes look yellow)
• an enlarged spleen
• dark colored stool

Diagnosis

• CBCs help healthcare providers identify and diagnose diseases
• Bilirubin levels
• Reticulocyte count: This blood test measures blood cells to see if your bone marrow is producing enough red blood cells.
• Serum aminotransferases: This test checks on an enzyme in liver.
• Peripheral blood smear: This blood test involves checking for changes in the number, type, shape and size of blood cells.

Treatment

• No treatment, just supportive measures such as transfusion of red blood cells in severe anemia
• Splenectomy
• Infection should be treated