The mystery of missing red blood cells

Several years ago, a girl came to see pediatric hematologist Vip Viprakasit, M.D. for a consultation. Her family had brought her to Bangkok, Thailand, from a neighboring country in Southeast Asia. Pale and weak, she was clearly very ill. Her hemoglobin levels were one-fourth of normal. Her doctors had been giving her monthly blood transfusions to treat her severe chronic anemia, but the treatment wasn’t working. 

To make matters worse, her immune system had started to reject the transfusions and had created antibodies against the foreign blood. To counteract her alloimmune state, her doctors had given her corticosteroids, which caused her face to swell and hair to grow abnormally on her body. 

Like many of the patients Vip sees these days, her condition was a puzzle—one he wanted to solve.“They say, ‘I have this problem. I have this symptom. I went to see another doctor, and I didn’t get any answers. Can you give me the answer?’” he says. “I would love to be the person who gives the answer.”

Thalassemia. A common illness. 

Hematology is an especially important field in Southeast Asia because hemoglobin disorders are common. More than 40% of the population has one of the genetic mutations responsible for thalassemia, a blood disorder of low hemoglobin production that results in shortages of red blood cells and oxygen in the bloodstream. 

Its symptoms range from paleness and mild anemia to jaundice, bone issues and anemia so severe that people need lifelong blood transfusions. It’s also hereditary. 

Despite the prevalence of such blood disorders in not only Southeast Asia, but also the Mediterranean, the Middle East and Africa, they’ve received limited research attention—a common occurrence in resource-limited countries like Thailand. Another challenge is that different blood disorders can present similarly but have different genetic causes. That has an impact on the course of treatment.

Vip wants to change the trajectory of the disease by offering his patients diagnostic certainty through molecular testing. 

A breakthrough 

A native and lifelong resident of Bangkok, Vip got his M.D. in 1987 and then trained in pediatrics and pediatric hematology at Thailand’s Royal College of Pediatrics. He also spent six years in the UK getting his Ph.D. from Oxford and completing a postdoc fellowship in molecular hematology at the Weatherall Institute of Molecular Medicine before joining Siriraj Hospital in 2004, where he’s been ever since. 

One of his major breakthroughs came in 2014, when he used next-generation sequencing to discover a mutation in the protein Krüppel-like Factor 1 (KLF1) that causes hemolytic anemia. This was an important finding, because it presents similarly to thalassemia but requires a different treatment plan. He published his findings on this new clinical syndrome in the scientific journal Blood that same year. 

Key to this work are QIAGEN DNA extraction kits, he says. “We do extraction for DNA from blood to a single cell,” he says. “And then we use the genetic results to tailor the treatment for the patient.” QIAGEN kits provide DNA extraction to a “very high standard” for applications from life science to clinical research and diagnostics. They are available for different formats and throughputs, as well as for manual and automated processing.

It was such a kit that solved the medical puzzle of the girl who came to his office desperate for a second opinion about her anemia. 

Finding a mutation

A genetic analysis of the young patient’s DNA revealed that she didn’t have thalassemia. Instead, she had a mutation on another gene that affected her red blood cells. That explained why blood transfusions weren’t working. He knew what would: a splenectomy. 

The spleen is one of the largest lymph organs and is responsible for, among other things, filtering out old red blood cells. The girl’s spleen, however, was removing too many. “That’s why the transfusions weren’t working,” he says. “I knew that she would respond so well to a splenectomy.” 

The result of the surgery, he said, was like “a miracle. Her hemoglobin increased to the normal level. She returned to normal. She returned to school. And she never received a blood transfusion again.” Vaccinations and antibiotics helped compensate for the bacteria-removing abilities of the spleen.

Today the young woman is in her third year of medical school. Inspired by Vip, she wants to be a hematologist. “That’s really fulfilling for me,” he says. “I’m very proud of her.”