Did We Save A Life?: The Thalassemia Consult

Thalassemia is definitely not one of the ball park disease that most people would be familiar with. That’s probably the reason why it’s so hard to accept for a mother  with nothing much apart from the clothes on her back that her five year old daughter has something so alien and something she has  never even heard of before.

 

Lyka Martinez* is a five year old girl with gross delay in development. She does not meet the expected height and weight for a child her age and  she tires easily with little work or play. Her abdomen is also alarmingly bulging and a hard ballotable mass can be palpated on the left. This corresponds to her spleen. Try feeling up your left side and tell me if you could feel something hard. On most people, this area will be soft and no mass will be appreciated.

 

Lyka was seen at an outreach mission by a group of Balikbayan UPCM Graduates from the 60s. A hematologist - a specialist in blood and bone marrow diseases — was able to look up at her lab results from a hospital in her home province of Nueva Ecija and the findings alarmed her so much that she asked the mother  to bring her to the Philippine General Hospital for a consult. She scribbled the words Very Indigent  on the referral letter citing the primary impression of Congenital Spherocytosis - a disorder that manifest with fragile and malformed red blood cells.

 

Days before the outreach mission, Lyka was admitted at the local hospital for anemia. She had to be given a blood transfusion to help her along. Blood tests were also done and red flags were all over her test results. Her hemoglobin  - a protein molecule that binds  to the oxygen molecules — levels were at half the accepted normal value. A probe of the patient’s familial history reveals that one of the patient’s sisters also had similar symptoms. She was never brought to a hospital and she simply died of the complications of a mysterious disease that nobody in the family could explain.

 

Congenital spherocytosis is not prevalent in the country and the doctor who suggested this differential probably practiced in the United States where such cases are more common. Thalassemia on the other hand is relatively more prevalent. The spleen serves as a reservoir of red blood cells and it destroys old or defective red blood cells. In normal people, that’s just fine - we produce red blood cells at a rate that could compensate for the destruction and the lifespan of a red blood cell doesn’t last longer than 120 days.

 

In thalassemia though, it’s a different story. Since the hemoglobin in the cells are malformed to begin with, the spleen will destroy cells and those destroyed cells will only be replaced by more defective cells. It’s a vicious cycle.

 

The patient truly is indigent. They don’t have the money needed to clinch the diagnosis and lab tests that only cost a few hundred pesos are literally too steep for them. We made orders to have them admitted to the hospital, but come to think of it, what did it really do?

 

Thalassemia has no definitive cure. There is no way at present to reprogram the body to create normal hemoglobin. All that doctors could do is to schedule blood transfusions and ensure that the patient doesn’t get complications from associated conditions. Even with ample transfusions, there is also a risk of iron toxicity. This requires a whole new set of procedures called chelation to rid the body of excess iron.

 

In the end, one has to ask if it’s even worth it.

 

We sent our patient to the emergency room with a heavy heart. Yes, she might have died had we sent her back home to Nueva Ecija. But keeping her in the emergency room just exposes her to new perils that would make her succumb to infection just as fast.

For the first time, I felt truly helpless about a patient under my  care.  I know I’ll see  it more in the coming months and years, but now, it’s just something that I feel that I will never get used to.

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