A 28-year-old woman with non-transfusion-dependent thalassemia (NTDT), an inherited blood disorder characterized by lower levels of hemoglobin and fewer red blood cells, had refused to receive treatment and regular blood transfusions until the illness caused her to stop menstruating at the age of 18.
According to National Taiwan University Hospital’s Department of Pediatrics doctor Lu Meng-yao (盧孟佑), who is also the president of the Taiwan Thalassemia Association, the patient, nicknamed Grace, was diagnosed with NTDT when she was three years old.
“At first, Grace was reluctant to accept that she had the disease and chose to cling to the misconception that she did not need blood transfusions so long as she did not experience episodes of fainting. She thought she would be a normal person if she simply put aside the disease,” Lu told a press conference in Taipei yesterday.
Lu said that because of the disorder, Grace suffered from chronic anemia and extremely low levels of hemoglobin — the molecule in red blood cells that carries oxygen. Her hemoglobin levels once dropped to only 3 milligrams per deciliter (mg/dl), compared with a healthy level for women of 12mg/dl.
“As the disorder can also cause bone marrow to expand and thus become brittle and more prone to breaking, Grace had developed severe osteoporosis and had experienced several bone fractures, including fractures of the rib and cervical vertebrae,” Lu said.
With the encouragement of the association and her parents, Grace eventually agreed to undergo regular blood transfusions and oral iron therapy, which has helped bring her menstrual cycle back to normal and make her less frightened of taking part in physical activity, Lu said.
Taiwan Thalassemia Association director-general Lin Kai-hsin (林凱信) said thalassemia is the most common inherited disease in the nation, with an estimated 6 to 10 percent of the population carrying a genetic mutation that can lead to the disorder.
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