General Practice 2022

G6PD deficiency: what é, symptoms, causes and treatment

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G6PD deficiency: what é, symptoms, causes and treatment
G6PD deficiency: what é, symptoms, causes and treatment
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G6PD deficiency is a genetic disease characterized by a defect in the enzyme glucose-6-phosphate dehydrogenase (G6PD), which is responsible for protecting cells from free radical damage and keeping red blood cells he althy, and therefore, the malfunction of this enzyme can result in the destruction of red blood cells, leading to the development of hemolytic anemia.

However, G6PD enzyme deficiency alone is not enough to cause hemolytic anemia, but some factors such as infectious diseases or medication intake, can trigger hemolytic anemia, with symptoms such as shortness of breath, urine dark or palpitation. In addition, consumption of fava beans in people with this deficiency can lead to the development of severe hemolytic anemia, also called favism.Know how to identify the symptoms of hemolytic anemia.

The diagnosis of G6PD deficiency can be made in childhood, with the expanded heel prick, or at any stage of life, by measuring the amount of the G6PD enzyme, and treatment must be indicated by the general practitioner or hematologist, to prevent the development or treat hemolytic anemia.

Main symptoms

G6PD deficiency may not cause symptoms, however when a person is exposed to risk factors, it can result in the development of hemolytic anemia, and symptoms such as:

  • Heart palpitation;
  • Shortness of breath;
  • Dark urine;
  • Fever;
  • Excessive fatigue;
  • Pale skin;
  • Yellowish skin or eyes;
  • Lumbar pain;
  • Dizziness;
  • Confusion.

In the presence of these symptoms, it is important to consult the general practitioner or hematologist, so that the most appropriate diagnosis and treatment can be made.

How the diagnosis is made

The diagnosis of G6PD deficiency can be made shortly after birth with the expanded heel prick, but it can also be diagnosed later in life through a blood test to check the amounts of the G6PD enzyme. See other diseases that can be detected in the expanded heel prick test.

In addition, the doctor may order other blood tests such as complete blood count, hemoglobin levels and reticulocyte count, as they provide information about red blood cells, allowing the diagnosis of hemolytic anemia.

The doctor should also evaluate the medications that the person uses, the presence of infectious diseases and eating habits.

Possible causes

G6PD deficiency is caused by a genetic mutation that leads to a decrease in the amount of the enzyme glucose-6-phosphate dehydrogenase (G6PD), which is responsible for preventing cell damage caused by free radicals, being that red blood cells are especially sensitive to free radicals due to their function of carrying oxygen throughout the body.

Some factors can cause an increase in the amount of free radicals in the body such as:

  • Stress;
  • Infectious diseases;
  • Consumption of beans;
  • Ingestion of medicines such as chloroquine, hydroxychloroquine, paracetamol or sulfamethoxazole, for example.

In this way, the deficiency of this enzyme reduces the protection of cells against free radicals, causing the destruction of red blood cells and the development of hemolytic anemia.

G6PD deficiency and COVID-19

Some laboratory studies have shown that G6PD deficiency can increase the risk of coronavirus infection and development of the severe form of COVID-19, as SARS-COV-2 can lead to increased free radicals in cells, destroying red blood cells and leading to the development of hemolytic anemia [1, 2, 3, 4]

However, further studies are needed to determine whether there is a relationship between G6PD deficiency and COVID-19 infection.

How the treatment is done

The treatment of G6PD deficiency consists of avoiding risk factors for the development of hemolytic anemia, such as the use of antimalarial drugs, such as chloroquine, sulfonamide-based antibiotics, such as sulfamethoxazole, or analgesics such as paracetamol, besides not consuming broad beans.

In the case of hemolytic anemia caused by G6PD deficiency, the doctor should prescribe treatment to fight the infection.However, if hemolytic anemia is severe, hospitalization and treatment with oxygen therapy or blood transfusion may be required to replace red blood cells.

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