We’ve had the chance to interview Professor Alberto Zanella, who is now retired but still active in boards of hematology such as the Editorial Board of Transfusions and Apheresis Science. Before retirement he was the head of Division for Haematology at Fondazione “Ca Granda” Ospedale Maggiore Policlinico IRCCS, Milan. PKD is one of the haematology diseases he has focused on in his career.
How long is the life expectancy of a person with Pyruvate Kinase Deficiency?
Dr. A. Zanella: There are no data on life expectancy of PK deficient patients. Most PKD persons with moderate to mild anemia have a relatively normal life, apparently without much compromise of life-span, provided a careful monitoring of iron status is performed. The oldest PKD patient I am actually following is a 70 yrs old man with Hb levels of 10-11 g/dL, never transfused, heterozygous for hereditary hemochromatosis, who has received three courses of iron chelation (at approximately 10-12 years interval) for moderate iron overload. He is in very good health conditions.
Are there cases of premature death because of Pyruvate Kinase Deficiency?
Dr. A. Zanella: PKD can be fatal in early childhood, as in the case of the gene lesion prevalent among the Amish of Pennsylvania that produces particularly severe disease. Early onset of iron overload may be a serious threat to long-term health in PKD patients. The most serious, life-threatening complication that may cause premature death of PKD patients is post-splenectomy sepsis, with a risk of 3.3%-5% and a mortality rate of up to 50%. Albeit the incidence of sepsis in asplenic children and adults is reported to be similar, the death rates among children are higher than adults (1.7% vs, 1.3%).
“I don’t think about life expectancy because for every person on the planet, it is unknown. We are all terminal. We could eat well, have perfect health and then get run over by a bus. We just have to love every day.”
Man, 50 years
Learn more about living without a spleen or about iron overload.
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