Health Xtra Case Study | Dr. Yogitha Namasani, Redcliffe Labs: When Severe Anemia Revealed Sickle Cell Disease During Pregnancy

Case Overview

• A 27-year-old pregnant woman with no significant previous medical history presented with fever, shortness of breath, and difficulty standing.
• She appeared very pale and had jaundice, while ultrasound revealed hepatosplenomegaly, or enlargement of the liver and spleen.
• Her CBC showed severe anemia, with hemoglobin reported at 3.7 g/dL and a very low RBC count, along with an elevated WBC count.
• The peripheral smear showed target cells, nucleated red blood cells, and a few doubtful sickle-shaped cells, prompting further investigation.
• A sickling test was positive, and confirmatory testing through HPLC/haemoglobin electrophoresis confirmed sickle cell disease.
• As Dr. Yogitha Namasani, Labs Head at Redcliffe Labs, Hyderabad, explains, sickle cell disease is an inherited genetic condition in which abnormal hemoglobin can make red blood cells rigid and sickle-shaped, potentially leading to serious complications.

The Case: When Severe Anemia Pointed to Something More

During pregnancy, symptoms such as weakness, breathlessness, and fatigue can have several possible causes.

But in this case, the severity of the presentation called for a closer look.

A 27-year-old pregnant woman, with no significant previous medical history, presented with fever for four days. She had shortness of breath and difficulty standing.

On examination, she was noticeably pale and had jaundice.

An ultrasound revealed hepatosplenomegaly, meaning that both the liver and spleen were enlarged.

The findings suggested that this was more than routine pregnancy-related fatigue or anemia.

The next step was to understand why her blood counts were so severely affected.

What Did the Initial Blood Test Reveal?

A Complete Blood Count (CBC) revealed severe anemia.

Her hemoglobin was approximately 3.7 g/dL, and her RBC count was only around 1.2 million/µL.

Her WBC count was elevated at approximately 24,700/µL, suggesting an associated infection or inflammatory process, while her platelet count remained adequate.

The combination of severe anemia, jaundice, and hepatosplenomegaly raised the possibility of a process involving the breakdown of red blood cells — known as hemolytic anemia.

But the CBC alone could not identify the underlying cause.

That required a closer examination of the blood cells.

What Did the Peripheral Smear Reveal?

A peripheral blood smear was performed to examine the appearance of the patient's red blood cells under a microscope.

Along with normally shaped red blood cells, the laboratory team observed:

• A few doubtful sickle-shaped cells
• Numerous target cells
• Many nucleated red blood cells

The presence of possible sickle-shaped cells was an important clue.

However, the finding needed careful interpretation because the patient had received a blood transfusion two days before the sample was collected.

Rather than stopping at a suggestive finding, the laboratory team proceeded with further testing.

The Turning Point: A Positive Sickling Test

Based on the peripheral smear findings, the team advised a sickling test.

The test was positive, with red blood cells beginning to sickle within about 10 minutes.

This strengthened the suspicion of a sickle cell disorder.

But a screening or sickling test alone is not enough to establish the complete diagnosis.

A confirmatory test was therefore required.

How Was Sickle Cell Disease Confirmed?

The patient was advised to undergo High-Performance Liquid Chromatography (HPLC) or hemoglobin electrophoresis.

These tests analyze the different types of hemoglobin in the blood and can help identify abnormal hemoglobin patterns.

The confirmatory testing established that the patient had sickle cell disease.

A condition that had apparently remained undiagnosed until adulthood had now been identified during pregnancy.

What Is Sickle Cell Disease?

Sickle cell disease is an inherited genetic disorder that affects hemoglobin, the protein in red blood cells that carries oxygen.

As Dr. Yogitha Namasani explains, abnormal hemoglobin causes red blood cells to lose their normal round, flexible shape and become sickle- or crescent-shaped under certain conditions.

These cells can become rigid and may obstruct small blood vessels.

This can lead to episodes of pain and other complications, commonly referred to as a sickle cell crisis.

Triggers can include infections, stress, and extreme temperatures.

Why Can Red Blood Cells Become a Problem?

Normal red blood cells are flexible enough to move through even very small blood vessels.

Sickled red blood cells are more rigid and can have a shorter lifespan.

When they become sickled, they may obstruct small blood vessels and reduce the flow of oxygen-rich blood to tissues.

At the same time, their increased breakdown contributes to hemolytic anemia.

This helps explain why a patient with sickle cell disease may present with a combination of:

Severe anemia + jaundice + abnormal red blood cells + organ enlargement

The laboratory findings in this case brought these pieces together.

Why Was the Diagnosis Important During Pregnancy?

Pregnancy can add another layer of complexity to sickle cell disease.

The condition can affect the health of both the mother and the developing baby, making appropriate medical monitoring particularly important.

Genetic considerations are also important.

Sickle cell disease is inherited. Therefore, when a woman is identified with the condition, understanding the biological father's hemoglobin status is also relevant when assessing the baby's possible genetic implications.

This is why identifying an inherited hemoglobin disorder can be particularly important during pregnancy and, ideally, during preconception planning.

Is Sickle Cell Disease the Same as Sickle Cell Trait?

No.

This distinction is important.

Sickle cell disease refers to a group of inherited conditions in which abnormal hemoglobin can cause the characteristic sickling of red blood cells and associated health complications.

Sickle cell trait means that a person carries one copy of the sickle hemoglobin gene. People with the trait generally do not have sickle cell disease, although specific circumstances can have health implications.

The distinction also matters for family planning because the genetic status of both biological parents influences their child's possible hemoglobin status.

Why Was More Than One Test Needed?

This case demonstrates an important principle of laboratory medicine:

One test can raise suspicion. A combination of findings can establish the diagnosis.

The diagnostic journey progressed through several stages:

CBC → Peripheral Smear → Sickling Test → HPLC/Haemoglobin Electrophoresis

The CBC identified severe anemia.

The peripheral smear provided morphological clues.

The sickling test strengthened the suspicion of a sickle cell disorder.

Finally, HPLC or hemoglobin electrophoresis confirmed the diagnosis.

Each investigation answered a different diagnostic question.

Why Early Detection Matters in Sickle Cell Disease

Sickle cell disease is a lifelong inherited condition. While diagnosis cannot eliminate it, early identification allows appropriate medical care, monitoring, and counseling to begin.

For women who are pregnant or planning pregnancy, knowing their sickle cell status can be especially important.

It allows healthcare professionals to consider:

• Maternal health and disease monitoring
• Management of anemia and other complications
• Appropriate pregnancy surveillance
• The need for specialist care
• Testing and counseling for the biological partner
• Potential genetic implications for the baby

The earlier the condition is recognized, the sooner these considerations can become part of the patient's care plan.

What Does This Case Teach Us About Anemia?

Anemia is common, but not all anemia has the same cause.

Iron deficiency, vitamin deficiencies, chronic disease, blood loss and inherited hemoglobin disorders can all lead to anemia.

When anemia is unusually severe, recurrent, unexplained, or accompanied by findings such as jaundice, hepatosplenomegaly, or abnormal red blood cell morphology, further investigation may be necessary.

This case is a strong reminder that simply identifying anemia is only the beginning.

The more important question is: Why is the patient anemic?

The Role of Diagnostics: From an Abnormal Count to a Clear Diagnosis

The most valuable part of this case was not a single test result.

It was the way the laboratory findings progressively built the diagnostic picture.

A severely low hemoglobin level prompted further evaluation.

The peripheral smear revealed unusual red blood cell morphology.

The sickling test provided another important clue.

Confirmatory hemoglobin analysis established the diagnosis.

This is where laboratory medicine can make a meaningful difference: turning an unexplained abnormality into information that doctors can use for appropriate patient management.

What Does This Mean for Women Planning a Pregnancy?

Sickle cell disease is inherited, so knowing one's hemoglobin status can matter before and during pregnancy.

Women with a personal or family history of sickle cell disease or other hemoglobin disorders may wish to discuss appropriate screening with their healthcare provider.

If a hemoglobin disorder is identified, preconception counseling and genetic counseling can help couples understand the condition and its possible implications for future pregnancies.

The objective is not to create fear around pregnancy.

It is to ensure that patients and doctors have the information they need to plan care appropriately.

The Key Takeaway

This case began with symptoms that could have been attributed to several conditions: fever, breathlessness, profound weakness, and severe anemia.

But laboratory investigation revealed a much deeper diagnosis.

A peripheral smear raised suspicion of a sickle cell disorder. A sickling test supported that suspicion. HPLC/haemoglobin electrophoresis confirmed sickle cell disease.

The case highlights an important lesson:

When anemia is severe or unexplained, looking beyond the hemoglobin number can reveal the underlying condition.

And when an inherited blood disorder is identified during pregnancy or before conception, that information becomes an important part of planning appropriate medical and reproductive care.

Frequently Asked Questions

1. What is sickle cell disease?

Sickle cell disease is an inherited blood disorder caused by abnormal hemoglobin, which can make red blood cells rigid and sickle-shaped.

2. What causes sickle cell disease?

Sickle cell disease is caused by inherited genetic changes that affect hemoglobin. A child inherits the relevant genes from their biological parents.

3. What is the difference between sickle cell disease and sickle cell trait?

Sickle cell disease causes the clinical condition associated with abnormal sickling, while sickle cell trait generally means a person carries one copy of the sickle hemoglobin gene.

4. Can sickle cell disease be diagnosed in adulthood?

Yes. Although it is inherited from birth, some people may remain undiagnosed until later in life if symptoms have not previously led to appropriate testing.

5. What are the symptoms of sickle cell disease?

Symptoms vary between individuals but may include anemia, fatigue, pain episodes, jaundice, and complications caused by reduced blood flow.

6. Why is a peripheral smear performed for anemia?

A peripheral smear allows laboratory professionals to examine the shape, size, and appearance of blood cells. Certain patterns can provide clues about the underlying cause of anemia.

7. What is a sickling test?

A sickling test is a screening test that assesses red blood cells' ability to sickle under specific test conditions. Additional testing may be required to establish the specific hemoglobin disorder.

8. What is HPLC in hemoglobin testing?

HPLC, or High-Performance Liquid Chromatography, is a laboratory technique used to separate and identify different hemoglobin fractions. It can help diagnose various hemoglobin disorders.

9. Is HPLC the same as hemoglobin electrophoresis?

No. Both methods analyze hemoglobin, but they use different laboratory techniques. Depending on the clinical situation, either may be used to evaluate hemoglobin disorders.

10. Can sickle cell disease affect pregnancy?

Yes. Pregnancy in women with sickle cell disease can involve additional health considerations and may require closer medical monitoring.

11. Should the biological father be tested if the mother has sickle cell disease or trait?

A healthcare professional may recommend testing the biological father because both parents' hemoglobin status matters when assessing the baby's possible genetic status.

12. Can sickle cell disease be treated?

Sickle cell disease is a lifelong inherited condition. Treatment focuses on managing symptoms, preventing complications, and providing appropriate medical care based on the individual's condition.

13. Can severe anemia be caused by sickle cell disease?

Yes. The increased breakdown of sickled red blood cells can contribute to hemolytic anemia.

14. Why is early diagnosis of sickle cell disease important?

Early diagnosis can help patients access appropriate medical monitoring, treatment, counseling, and preventive care. It can also be particularly relevant for pregnancy and family planning.

Health Xtra by Redcliffe Labs

Every Test Tells a Story. Sometimes, the most important part of the story is what the first impression doesn't tell you.

This case study is intended for educational purposes. A qualified healthcare professional should make test selection and treatment decisions based on the patient's symptoms, clinical history, diagnostic findings, and applicable clinical guidelines.