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My Son Inherited Thalassemia, a Blood Disorder My Husband and I Didn't Know We HadThis mom is sharing her story to help spread awareness of a blood condition that can become fatal.
May 8, 2019 is World Thalassemia Day. A mom shares her story of how their life changed when her son was diagnosed with the blood condition to spread awareness about the rarely-talked-about disorder.
My firstborn was diagnosed with beta-thalassemia, a lifelong inherited blood disorder. This condition meant that his body cannot produce enough red blood cells (RBCs), and he needs to have regular blood transfusions (BTs) to survive and stay healthy.
You don't really hear many people talking about thalassemia. Some call it a rare condition, but it's actually not. You will be surprised how common it is among Pinoys — we just don't know enough about it. The type my son has is one of many that parents pass on to their children and affect the amount and kind of hemoglobin or RBCs their body produces.
Most people who have thalassemia are considered to be "silent carriers." Mild thalassemia does not require blood transfusions, but it can still be passed to the carrier's child. That's what happened to my husband and me — apparently, we are both carriers of the disorder, but we were never diagnosed.ADVERTISEMENT - CONTINUE READING BELOW
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In hindsight, when I was growing up, I was really pale, and I experienced passing out once or twice. My parents took me to see a doctor, but he didn't specialize in diagnosing and treating blood disorders (the doctor for that is called a hematologist). The doctor said I had iron deficiency anemia (IDA). Anemia and fatigue happened to be two common symptoms of thalassemia.
How did we find out about my son's condition? My son was 2 years old when he got this "on-and-off" fever, and he couldn't stand on his own. We feared he had dengue, so we took him to the nearest clinic. The doctor then ordered a complete blood count (CBC) and dengue tests.
A person's typical RBC count will be at least 120 grams per liter (g/L), but my son's CBC results showed his RBC count at 54 g/L. It wasn't even half of the normal RBC count! The pediatrician asked a repeat CBC, and of course, we did as the doctor instructed.ADVERTISEMENT - CONTINUE READING BELOW
My son's second CBC results even showed a decrease in his RBC, and it was now down to 51 g/L. The doctor just sent us to the nearest hospital — we almost lost our kid! It just showed the doctor's lack of knowledge and awareness about this blood condition.
The hematologist at the hospital suspected that my child had thalassemia, but he needed to undergo confirmatory tests. The tests were hemoglobin electrophoresis, a blood test that measures different types of hemoglobin, and high-performance liquid chromatography (HPLC), a chemical analytical technique performed in the blood to separate, identify, and quantify its components.
We had them done a month after his first blood transfusion, and it confirmed my son's condition.
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My son did not show any symptoms of thalassemia at birth, but they developed and manifested in his second year. The mandatory newborn screening (NBS) tests in 2011 did not include thalassemia as one of the disorders it can detect. Thankfully, the expanded newborn screening (ENBS) test now includes it as one of the diseases under hemoglobinopathies,a group of blood disorders and conditions that affect red blood cells.ADVERTISEMENT - CONTINUE READING BELOW
(Starting January 2019, ENBS is included in the Philhealth's Newborn Care Package.)
Knowing about thalassemia changed our lives forever. We monitor my son's hemoglobin count, and we take him to see his hematologist regularly. He also has to eat a specific diet, such as food LOW in iron. The blood transfusions cause his body to build up iron, which can cause long-term problems and can be fatal. It may shut down his heart, kidneys, and other organs. Other possible complications include slow growth rate and increased risk of infection.
If you think you or anyone in your family is too pale or always drowsy, instead of popping over-the-counter iron supplements, better see a hematologist and have a routine CBC done. Check if you're a silent carrier passing your genes to the next generation. Ignorance and awareness of thalassemia can spell the difference between life and death.
Esper Abrajano-Bitare is a mom of two and works full-time for a BPO company. Her son Khalel, now 7, who was diagnosed with thalassemia at age 2. Her daughter Miza, 1, had the Expanded Newborn Screening (NBS) at birth to check if she also has the gene. Her ENBS results were negative for thalassemia, but the doctor says her blood tests shows some of the blood disorder's traits.ADVERTISEMENT - CONTINUE READING BELOW
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