Role of Newborn Screening in Early Detection of G6PD Disorder

Pregnancy ushers a lot of happiness and hope in most parents. However, when the little one is born with genetic disorders, it can cause worry and burden to young parents. One such severe genetic disorder is G6PD Disorder!

Do you know healthcare professionals call G6PD a housekeeping enzyme? It is because the G6PD (Glucose-6-phosphate Dehydrogenase) keeps your red blood cells healthy and safeguards them from toxic elements in your blood. But what if there is a deficiency?

Experts reported that G6PD deficiency would trigger a chain of events in your body and might result in life-threatening conditions. To ensure that your child has holistic growth and the best quality of life, healthcare professionals advise parents to opt for newborn screening tests.

Now, what is the context of G6PD deficiency and the role of newborn screening in India? Scroll down to find out!

Understanding G6PD Deficiency

G6PD deficiency is an active enzyme that is involved in various healthy processes including releasing energy, oxygen transportation, and more. When the body lacks the enzyme, it will result in G6PD deficiency. It is a genetic hemoglobin disorder, where the red blood cells tend to break down at a faster rate than the production.

The common symptoms of enzyme deficiency include.

• Shortness of breath
• Fatigue or lethargy
• Rapid heart palpitations
• Paleness
• Jaundice (yellow skin tone)
• Dark urine
• High-pitched cry
• Weak suck
• Hemolysis (abnormal blood smear)

In severe cases, the deficit will lead to neonatal jaundice, kidney failure, and other severe life-threatening conditions.

Prevalence of G6PD Deficiency in India

Studies have reported that G6PD deficiency is the most common type of enzyme deficiency, which has affected over 400 million people across the world. However, G6PD deficiency in India was reported 50 years ago. India encompasses various ethnic, castes, and linguistic groups with greater variation in geographic and environmental aspects.

The landscape being malaria endemic, the treaty requires primaquine drugs typically conditioned without routine G6PD screening. It makes people more vulnerable to enzyme deficiency and other serious complications.

Systematic research has found that the wide variability of G6PD deficiency ranges between 0% and 30.7% in India. Reports have observed that the incidence of the deficiency is considerably higher in the tribal regions (9%) compared to other ethnic groups (7%). In addition, the condition is highly diagnosed in males when compared to females as it’s a type of X-chromosome-linked deficiency.

Role of Newborn Screening in G6PD Deficiency Detection

Imagine meeting your little bundle of joy in person, appearing normal and healthy. Now, your healthcare professional enters the door saying that they need to perform newborn screening for your little one. What is it?

Newborn screening is a public health program that generally involves the comprehensive testing of infants for genetic, metabolic, and congnetic dorsers immediately after birth. The early identification of such conditions in newborns will help in preventing severe complications and enhancing better outcomes.

Infants with G6PD might appear normal and healthy at birth. However, over time the serious effects of enzyme deficiency will start to affect their health. Recognizing and managing the condition through the screening process will help the child with the deficiency to lead a normal, healthy life.

Tests and Results of Newborn Screening

Universal newborn screening for G6PD deficiency is usually performed by primary DNA screening and enzyme analysis methods. It is usually performed between 48 to 72 hours after birth. The tests and results involved in the process are,

• Blood tests

In most healthcare centers, blood tests are the prominent newborn screening test to detect G6PD deficiency. The blood samples are collected from the umbilical cord of the infant soon after the birth. If the cord blood cannot be collected, a heel prick test will be done on the newborn 48 hours after the birth.

• Results

The results for Newborn screening in G6PD deficiency will be available within 2 weeks. Most of the infants tend to show normal results. However, if the results aren’t normal, you will be contacted immediately by the healthcare professionals and will be referred to the specialist for further diagnosis. It is imperative to diagnose your baby's condition for further testing without delay. The sooner the condition is diagnosed, the higher will be their chance of leading a healthy life.

Newborn screening in G6PD deficiency detection can effectively reduce the neonatal mortality and mobility rates. Given the present circumstances, high-profile medical facilities and preventive screening tests like NBS should be made mandatory by the government. It will help the parents ensure that their kids have a healthy future and better well-being.

NBS Scenario in India

NBS has emerged with an imperative role in today's healthcare. Even after decades of the introduction of NBS in India, we have still been facing considerable challenges in implementing it as a part of a universal program. In India, Newborn Screening (NBS) is not usually funded by the central or state government. At present, Universal NBS available under the public sector is available only in three regions – including Goa, Kerala, and Chandigarh.

Some of the challenges linked with NBS in India are,

• Early discharge from the healthcare centers causes failure of sample collection and thereby delays the early diagnosis
• A huge population rate leads to the increased incidence rate
• Only less than 5% of infants are screened for G6PD deficiency and other genetic disorders
• Lack of awareness among parents and even clinicians
• Financial constraints of the parents

Summing Up!

Infants with G6PD deficiency can be treated appropriately when detected early with newborn screening. Healthcare professionals will suggest essential lifestyle and dietary changes so that you can prevent flare-ups in the condition and can lead partially unaffected lives. It ultimately emphasizes that setting up a centralized newborn screening for early detection of G6PD deficiency is the need for the hour.

The newborn screening also ought to encompass the therapy and aftercare of the diagnosed newborns. Now will be the right time to rejuvenate ourselves with preventative measures, to glorify the health of our future generation.

Experts always say that prevention is better than cure. However, in the era of constant lifestyle diseases, and constant health deprecation, accurate and timely diagnosis has become a necessity rather than a mere routine. At Apollo Diagnostics, we combine comprehensive knowledge and contemporary technology to offer a wide range of quality diagnostic services. Our expert team thrives on expanding our footprint, catering to the evolving health landscape.