G6PD Deficiency And Stem Cell Therapy

Stem Cell Therapies

Stem Cell Therapy

G6PD stands for glucose-6-phosphate-dehydrogenase, and it’s a genetic abnormality in which the amount of G6PD in the body is below the normal values. G6PD is an enzyme in the body that controls several biochemical reactions in the body. Other functions of the enzyme are also keeping the erythrocytes healthy, and ensuring that they function well. A reduction or deficiency of this enzyme in the body would lead to the premature breakdown and destruction of red blood cells. The process by which red blood cells break down before the usual 120 days is known as hemolysis. Prolonged hemolysis might eventually lead to hemolytic anemia. This disease is an X-linked recessive disorder. There are some factors that can induce the break down the red blood cells, in an individual affected by G6PD deficiency. Some of these factors include some medications, such as primaquine, some food products such as fava beans. In addition, infections and stress can also trigger hemolysis in G6PD deficient patients. Avoiding factors that might induce the breakdown of red blood cells is important for those affected by this disease. Hemolysis occurs when there is a trigger. The trigger could be anyone of the explained above. Hemolysis can persist to eventually become hemolytic anemia. This condition develops when the body is losing more cells than it’s replacing them. Hemolytic anemia usually presents with symptoms such as tiredness, shortness of breath, yellowing of the sclera of the eyes, and the skin.

G6PD deficiency is more predominant in Africa than in other parts of the world. Up to twenty percent of individuals are affected in the entire continent. It has been observed that this disease affects more men than women. Some patients do not present with any symptom, however, most do present with signs and symptoms when they’re exposed to the triggers of the disease.

What Are The Signs And Symptoms Of G6PD Deficiency?

Most people affected by this disease are asymptomatic, however, the patients that present with symptoms are usually exposed to the triggers, such as medication, food substances, stress and so on. Below are some of the signs and symptoms of the disease;

  1. Jaundice: This occurs due to the premature breakdown of red blood cells. The body becomes jaundiced when the hemolysis is more than usual, and the liver has been overwhelmed by the number of red cells that have been broken down. This is referred to as neonatal jaundice when it occurs in neonates. Jaundice is a symptom, and this might eventually lead to kernicterus; one of the most severe complications of G6PD deficiency.
  2. Diabetic ketoacidosis
  3. Renal problems: This condition when prolonged can lead to renal diseases such as acute renal failure. This is also a severe medical condition, that could lead to death if not well managed.
  4. Tiredness
  5. Dizziness
  6. Pallor: This occurs due to the low hemoglobin level of the patient
  7. Fever
  8. Colored urine: The urine of affected patients is usually colored, and they often appear dark or yellow in color.

What Causes G6PD Deficiency?

G6PD deficiency is a genetic disease that can be inherited. It’s passed from one generation to another, from parents to their children. It’s a sex-linked recessive disease. Therefore, males are predominantly more affected than females. The breakdown of red blood cells is usually induced by some factors, that are known as triggers. Below are some of the triggers;

  1. Food materials: One of the food materials that can induce hemolysis is fava beans.
  2. Medications: There are some medications that can also cause the hemolysis of red blood cells. Quinine drugs are notorious in this regard. An example is primaquine, a popular anti-malarial drug. In addition to this, sulfonamides have also been implicated to be a trigger that can lead to hemolysis in patients affected by G6PD
  3. Stress: Physical and emotional stress can also trigger the breakdown of cells.
  4. Infection: An individual suffering from G6PD deficiency that has bacterial or viral infections would experience the premature breakdown of red blood cells.
  5. Genetics: There are two variants of this disease, there is the G6PD A-, and the G6PD Mediterranean. The former one affects people from Africa, while the latter one affects people from the Mediterranean countries, such as the Middle East.

What Are The Risk Factors For G6PD Deficiency?

  1. Gender: It has been observed that this deficiency occurs more in males. This is because it’s a sex-linked recessive disease.
  2. Race: Afro-Caribbean have been noted to be more affected by this disease. In addition, people from the Mediterranean countries also do have high cases of this disease.
  3. Family history: People who have relatives or siblings that are affected by this disease have a high risk of also having G6PD

It’s important to note that having all risk factors doesn’t translate that you would have a G6PD deficiency.

How Can G6PD Deficiency Be Diagnosed?

This disease can be diagnosed by taking a blood sample and checking the level of the G6PD enzyme. Other tests that can be used in evaluating this include the complete blood count and the serum hemoglobin test.

How Is G6PD Deficiency Currently Treated?

The most important part of managing this disease is to avoid the triggers. Triggers such as food substances, infections, some medications should be totally avoided. Avoiding the inducers of this disease saves the patient from the symptoms and complications. The early phase of hemolysis can be managed by administering a blood transfusion, and even prescribing dialysis, in cases of acute renal failure. Blood transfusion is beneficial because the red blood cells that are transfused are usually not G6PD deficient, and can live for the normal 120 days. In severe cases, splenectomy can be done. The spleen is responsible for breaking and destroying the red blood cells, especially the old and defected ones. Removing the spleen will cause significant improvements in the patient.

Stem Cell Therapy And G6PD Deficiency

Successes have been recorded in the treatment of this disease. Hematopoietic stem cell transplantations have proved effective in the management of this disease. Stem cells are unique cells that are capable of regenerating and replacing old and defect cells in the body.

References

Noppadon Tangpukdee, P. (2013). Glucose-6-Phosphate Dehydrogenase (G6PD) Deficiency Status Should be Screened in All Vivax Malaria Patients in Thailand Where Severe G6PD Deficiency is Predominant. Tropical Medicine & Surgery, 01(01).

Prins, H. (1970). The detection of heterozygous G6PD deficiency; Similarity between glutathione deficiency and G6PD deficiency. Humangenetik, 9(3), pp.254-255.

Titheradge, H., Nolan, K., Sivakumar, S. and Bandi, S. (2011). Methaemoglobinaemia with G6PD deficiency: rare cause of persistently low saturations in neonates. Acta Paediatrica, 100(7), pp.e47-e48.

ZAKARIA, N. (2008). Cultivated stem cell transplantation for the treatment of limbal stem cell deficiency. Acta Ophthalmologica, 86, pp.0-0.