A Routine Antenatal Investigation That Revealed an Inherited Blood Disorder

Most investigations advised during pregnancy are intended to assess the health of the mother and support the wellbeing of the developing baby. They help clinicians evaluate blood counts, nutritional status, infections, blood sugar levels, and several other parameters that contribute to safe maternal care. Among these investigations, High Performance Liquid Chromatography, commonly known as HPLC, plays a unique role. While it is frequently recommended to identify abnormal hemoglobin variants, it also has the ability to reveal inherited blood disorders that may have remained unnoticed throughout an individual's life.

A recent case at Star Imaging and Path Lab Limited highlighted exactly why this investigation holds such clinical significance.

A 35 year old pregnant woman from Bihar was referred for HPLC screening as part of her routine antenatal evaluation. There was no documented history suggestive of a hemoglobin disorder, nor had she ever undergone specialized screening for inherited blood conditions. Like many individuals carrying a genetic hemoglobin variant, she had lived a normal life without knowing that she carried an altered form of hemoglobin.

The HPLC report, however, told a different story.

The analysis demonstrated Hemoglobin A at 52.9 percent, Hemoglobin S at 35.4 percent, Hemoglobin A2 at 2.6 percent, Hemoglobin F at 1.4 percent, with an HbA1c value of 4.9 percent. This characteristic distribution was consistent with heterozygous sickle cell disease, commonly known as sickle cell trait. The finding was incidental, yet clinically important, because it carried implications that extended beyond the laboratory report itself.

Unlike individuals affected with sickle cell disease, people with sickle cell trait generally remain healthy and experience little or no symptoms throughout life. Since routine blood investigations may appear normal, many carriers are never diagnosed unless a specific hemoglobin analysis is performed. As a result, the condition often remains unknown until investigations are carried out for pregnancy, family screening, blood donation, or other clinical indications.

During pregnancy, identifying a sickle cell carrier assumes considerable importance. While the mother may not develop complications related to the trait itself, the diagnosis raises an important clinical question regarding the baby's genetic risk. If the biological father is also a carrier of the sickle gene, each pregnancy carries a twenty five percent chance that the child could inherit sickle cell disease, a lifelong condition associated with chronic anemia, recurrent painful episodes, increased susceptibility to infections, and involvement of multiple organ systems.

For this reason, the diagnosis does not end with the mother's report. It prompts appropriate counselling and recommends screening of the partner so that both parents understand the possible genetic implications for their child. Such information enables obstetricians to guide the family regarding further evaluation, prenatal options where indicated, and future reproductive planning. The value of the laboratory finding therefore extends well beyond confirming a diagnosis. It contributes directly to informed clinical decision making.

Cases like this also reinforce an important aspect of laboratory medicine. Pathology is often perceived as a service that generates numbers and reports, but every investigation demands careful interpretation within the patient's clinical context. An HPLC chromatogram is not simply a collection of peaks. Each peak represents a distinct hemoglobin fraction, and understanding their relative proportions allows the pathologist to distinguish between normal patterns, inherited variants, and clinically significant hemoglobinopathies. Accuracy depends not only on advanced technology but also on professional expertise in interpretation.

In regions such as Bihar, Jharkhand, Chhattisgarh, Odisha, parts of Maharashtra, Gujarat, Madhya Pradesh, and several tribal belts across India, sickle cell disorders are encountered more frequently because of their higher genetic prevalence. Consequently, antenatal hemoglobinopathy screening assumes even greater clinical relevance in individuals belonging to or originating from these populations. Many carriers remain unaware of their status until pregnancy becomes the first opportunity for comprehensive evaluation.

This case serves as a reminder that some of the most valuable findings in diagnostics are not necessarily those clinicians initially expect. A routine antenatal investigation intended to support pregnancy care unexpectedly identified an inherited blood disorder that had remained silent for thirty five years. More importantly, it provided information that could influence counselling, partner evaluation, pregnancy management, and healthcare decisions for the family in the years ahead.

"Inherited blood disorders often remain silent until they are looked for with the right investigation. That is why pathology is not simply a support service. It is an integral part of clinical decision making. A single laboratory finding can influence pregnancy management today and guide healthcare decisions for an entire family tomorrow."

– Dr. Avni Bhatnagar, Consultant Pathologist

Frequently Asked Questions

Why was HPLC advised during pregnancy if the patient had no symptoms?

Pregnancy is one of the few occasions when comprehensive health screening is routinely performed. HPLC helps identify inherited hemoglobin disorders that may remain undiagnosed for years but become clinically relevant for genetic counselling and fetal risk assessment.

If someone has sickle cell trait, does it mean they have sickle cell disease?

No. Sickle cell trait means a person carries one normal hemoglobin gene and one sickle hemoglobin gene. Most carriers lead completely normal lives and never develop the complications associated with sickle cell disease.

Why should the partner also be tested after finding sickle cell trait in the mother?

The baby's risk depends on the genetic status of both parents. If only one parent carries the sickle gene, the child may inherit the trait but will usually not develop sickle cell disease. If both parents are carriers, there is a significant chance that the baby may inherit sickle cell disease.

Can a routine Complete Blood Count detect sickle cell trait?

Not reliably. A Complete Blood Count may appear completely normal in many carriers. HPLC specifically analyses different hemoglobin fractions, making it the preferred laboratory investigation for detecting hemoglobin variants such as Hemoglobin S.

Why is interpreting an HPLC report more complex than simply reading percentages?

Every hemoglobin fraction appears at a characteristic retention time and in a specific proportion. Pathologists evaluate the entire chromatographic pattern along with the patient's clinical details before reaching a diagnosis. The interpretation is based on both analytical findings and medical expertise rather than numerical values alone.

Who should consider HPLC screening even outside pregnancy?

Individuals with a family history of inherited blood disorders, couples planning a pregnancy, people belonging to regions with a higher prevalence of hemoglobinopathies, and patients with unexplained anemia despite normal routine investigations may benefit from HPLC screening when advised by their clinician.