Glucose-6-phosphate dehydrogenase, or G6PD, is an enzyme in the body that helps protect red blood cells from injury. When an individual suffers from G6PD deficiency, a genetic disease, he or she fails to make an adequate amount of this enzyme, thereby putting red blood cells in danger of cell death (1).
While this condition ranges in severity, it is of particular concern in the neonatal population, and physicians should be on the lookout for signs and symptoms of G6PD deficiency in high-risk neonates. If mismanaged, it can lead to conditions such as hemolytic anemia, jaundice, and kernicterus (a serious, permanent form of brain damage) (2).
What are the risk factors for G6PD deficiency?
Because G6PD is a genetic, X-linked condition, it can be passed on from one or both parents to their offspring. Certain populations are at a higher risk of developing G6PD deficiency due to their genetic history. The following groups are more likely to develop G6PD deficiency (3):
- Males
- African Americans
- Those of Middle-Eastern descent
- Those with a family history of G6PD deficiency
If a neonate falls into one or more of these groups and exhibits signs and symptoms (discussed below) of G6PD deficiency, medical professionals should consider G6PD deficiency as a part of the differential diagnosis, and progress accordingly (4).
What are signs and symptoms of G6PD deficiency?
The signs and symptoms of G6PD deficiency may differ depending on the individual. Some people with the condition (especially females) may be asymptomatic. The following are some common indicators:
- Paleness
- Yellow skin tone (Jaundice)
- Hypertonia/hypotonia
- Dark urine
- Lethargy
- Shortness of breath
- Weak suck
- High-pitched cry
- Rapid heart rate
- Hemolysis (as indicated by an abnormal blood smear)
Diagnosing G6PD Deficiency
Because it can present with no symptoms in certain individuals, it may be hard for medical professionals to know when diagnostic testing should be administered. Experts list three conditions under which testing for G6PD deficiency is appropriate and necessary (2):
- In neonates with jaundice or unexplained hemolytic anemia, especially those considered high-risk
- In asymptomatic individuals considered to be in a high-risk population, prior to taking certain medications that may poorly impact those with G6PD deficiency
- In other populations that may be at risk, i.e. newborn screenings, family members of affected individuals, etc.
G6PD deficiency is usually diagnosed through a screening test, followed by a confirmatory test. Though in certain facilities, the screening test is bypassed and the confirmatory test is used alone to make a diagnosis (2).
Neonatal Management and Treatment
Because of the massive risks associated with mismanaged G6PD deficiency, it is crucial that medical professionals begin treatment without hesitation. In some cases, treatment may even be necessary before a confirmatory diagnosis is made (7). Treatment of G6PD deficiency in infants is aimed at lowering the amount of bilirubin in the blood. Bilirubin is a substance created during the destruction of red blood cells. When too much bilirubin is in the blood (hyperbilirubinemia) it can lead to jaundice and, if left untreated, kernicterus (discussed below).
Excess bilirubin is first treated through the use of phototherapy. During phototherapy, a blue light is shone on an infant’s body in order to break down bilirubin (8). If phototherapy is not sufficient to reverse jaundice and other symptoms of G6PD deficiency, an exchange transfusion (a type of blood transfusion) or treatment with prophylactic phenobarbital may be necessary (7).
Long-term Outcomes
Infants with G6PD deficiency that are treated in a timely manner can go on to lead practically unaffected lives. There are certain dietary and medication restrictions that these individuals must adopt in order to keep the condition from flaring up. Medical professionals will provide a list of foods and medications to avoid.
However, if the diagnosis is mismanaged, and hyperbilirubinemia goes untreated, kernicterus can result. Kernicterus is severe, permanent brain damage and can cause conditions like cerebral palsy, seizures, intellectual impairments, and more.
Should I contact an attorney?
If your child or loved one suffers from kernicterus as a result of mismanaged G6PD deficiency at birth, a birth injury attorney may be able to help. At ABC Law Centers: Birth Injury Lawyers, our attorneys have exclusively taken on birth injury-related lawsuits since 1997.
Contact us today to begin your free case review with our birth injury lawyers. Free of charge and obligations, we will answer your legal questions, determine the at-fault party and inform you of your legal options. Lawyers at ABC Law Centers: Birth Injury Lawyers are ready 24/7 to help obtain compensation for lifelong treatment, therapy, and a secure future for your child.
Sources:
- Bertil Glader, “Genetics and pathophysiology of glucose-6-phosphate dehydrogenase (G6PD) deficiency,” UpToDate (2018), https://www.uptodate.com/contents/genetics-and-pathophysiology-of-glucose-6-phosphate-dehydrogenase-g6pd-deficiency.
- Bertil Glader, “Diagnosis and management of glucose-6-phosphate dehydrogenase (G6PD) deficiency,” UpToDate (2018), https://www.uptodate.com/contents/diagnosis-and-management-of-glucose-6-phosphate-dehydrogenase-g6pd-deficiency.
- Mark R Laflamme, “G6PD Deficiency,” Healthline (2016), https://www.healthline.com/health/glucose-6-phosphate-dehydrogenase-deficiency
- Jennifer E. Frank, “Diagnosis and Management of G6PD Deficiency,” American Family Physician (2005): Volume 72 (Edition 7): 1277-1282, http://www.aafp.org/afp/2005/1001/p1277.html.
- “Glucose-6-Phosphate Dehydrogenase Deficiency,” Baby’s First Test, http://www.babysfirsttest.org/newborn-screening/conditions/glucose-6-phosphate-dehydrogenase-deficiency.
- Ernest L. Abel, Arab Genetic Disorders: A Layman’s Guide (2003): 37-43. https://books.google.com/books?id=uLnzop59PbkC&pg=PA37&lpg=PA37&dq=g6pd+arab&source=bl&ots=eSrgn876kQ&sig=EA6sy5hrNMaEdVIZu02Ehj9KgMw&hl=en&sa=X&ved=0ahUKEwjAt_Xe1-rTAhVDw4MKHcRvBN0Q6AEIMTAC#v=onepage&q=g6pd%20arab&f=false.
- Janine Bernardo and Mary Nock, “Pediatric Provider Insight into Newborn Screening for G6PD Deficiency,” Clinical Pediatrics (2014): Volume 54 (Edition 6): 575-578 https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4946335/.
- “Bili lights,” MedlinePlus (2018), https://medlineplus.gov/ency/article/002394.htm.
