Growing Burden of Genetic Blood Disorders in India’s Youth

Metropolis Healthcare, India’s second-largest and highly trusted chain of diagnostic labs led by Ameera Shah, has released a major study that highlights a serious health issue among Indian children: inherited blood disorders.

The study, carried out from 2021 to 2024, screened nearly 20,000 children under the age of 12 who were suspected to have blood disorders affecting red blood cells, known as hemoglobinopathies. Alarmingly, about 28.4% of these children were found to have some form of inherited blood disorder.

These blood disorders can lead to long-term health problems such as constant tiredness, poor growth, and frequent infections. The most common issues found were:

Beta-thalassemia trait (38.7% of cases): A condition where the body doesn’t make enough healthy red blood cells. People with this trait may not have symptoms, but if both parents carry it, there’s a risk of passing on a more serious form to their children.

Sickle cell disease/trait (30% of cases): This causes red blood cells to become sickle-shaped, leading to pain, infections, and anemia.

These findings are worrisome since more than half of the affected children were under the age of 3. This shows how important it is to include genetic counseling, early testing, and prenatal screening in regular maternal and child healthcare.

The study also showed that different regions in India have different levels and types of these disorders:

• North-East India had the highest rate, with 48.44% testing positive, especially for a condition called Hemoglobin E.

• Central India showed a high number of sickle cell cases (37.36%).

• South India had a generally high rate of blood disorders (34.09%).

• Western and Northern India had many cases of beta-thalassemia trait.

Advanced Genetic Testing Plays Key Role

Metropolis Healthcare also carried out an earlier, larger study with over 65,000 samples from across India. This study showed the value of using advanced genetic testing to diagnose these blood conditions more accurately. Techniques such as Next-Generation Sequencing (NGS), Sanger sequencing, and Gap-PCR help healthcare providers detect both common and rare genetic issues—ranging from small DNA changes to large missing or duplicated sections—that traditional tests might miss. This helps doctors give more accurate advice to parents, improves early detection, and supports better treatment planning for patients.⁽¹⁾

A Life-Saving Treatment for Inherited Blood Disorder

A stem cell or bone marrow transplant is a medical procedure that replaces a child’s abnormal blood cells with healthy ones from a matched donor, aiming to stop the production of diseased cells. These stem cells can be sourced from bone marrow, circulating blood, or umbilical cord blood.

Before the transplant, children undergo chemotherapy to eliminate unhealthy cells. Many centers now use reduced-intensity conditioning, which involves lower doses of chemotherapy to lessen long-term side effects.

Finding a suitable donor is crucial. Ideal matches often come from siblings, unrelated donors from national registries, or even half-matched family members like parents or children.

The transplant process requires a hospital stay of 4 to 6 weeks and can be physically challenging. Possible side effects include infections, infertility, graft-versus-host disease, transplant rejection, and gastrointestinal issues. Despite the risks, a stem cell transplant offers hope to many young patients battling inherited blood disorders. ⁽²⁾

Summary

The growing burden of genetic blood disorders such as beta-thalassemia and sickle cell disease among Indian children is a pressing public health challenge that demands immediate and sustained attention. With nearly one in three children screened showing signs of hemoglobinopathies, early diagnosis and intervention have never been more crucial. Regional variations in prevalence underscore the need for location-specific health policies and education initiatives. Advanced genetic testing and stem cell transplants represent powerful tools in combating these conditions, but greater awareness, accessible screening programs, and genetic counseling must become standard components of maternal and child healthcare. Only through a coordinated and proactive approach can India hope to reduce the impact of these life-altering disorders on its youngest generation.

References:

1. Daphne Clarance, “India's hidden health crisis: Genetic blood disorders plague children under 12”, India Today, May 22, 2025. https://www.indiatoday.in/health/story/inherited-blood-disorders-high-prevalence-indian-children-beta-thalassemia-sickle-cell-2728633-2025-05-22

2. Daniel Yetman, “Can Beta Thalassemia Major Be Treated with a Bone Marrow or Stem Cell Transplantation?”, Healthline, November 1, 2022. https://www.healthline.com/health/beta-thalassemia-major-bone-marrow-transplant

(Rehash/Dr. Hansini Bhaskaran/MSM)