Hereditary Spherocytosis is a genetic disorder characterized by the production of red blood cells that are more prone to hemolysis.
My son, 18 years old (hieght 174cm, weight 73 kg), has a relatively rare disease, hereditary spherocytozis, which was diagnosed at the age of 11. The disease is expressed in a rare way since hemoglobin and hematocrit are normal range (aprox 145 and 0, 39), but the indirect bilirubin values are extremely increased (over 200 mmol/L, maximum value was 271 mmol/L). At the same time the values of reticulocytes are usually increased moderate (usually around 5 to 6% or about 320). Blood tests indicate markedly anisocytosis and poikilocytosis of erythrocytes and a mild polichromasia of erythrocytes. His blood test also indicate low level of cholesterol – 1,9 mmol/L (HDL 0,8 mmol/L, LDL 0,6 mmol/L). Ultrasound examinations indicate hepatosplenomegaly, spleen size is aprox 17 cm. From medications, he takes 5mg folic acid per week. Folic acid, iron, transferin and B12 are normal ranges. As doctors can not explain such high levels o bilirubin, I am iteresting if anyone has similar situation.
CoRDS, or the Coordination of Rare Diseases at Sanford, is based at Sanford Research in Sioux Falls, South Dakota. It provides researchers with a centralized, international patient registry for all rare diseases. This program allows patients and researchers to connect as easily as possible to help advance treatments and cures for rare diseases. The CoRDS team works with patient advocacy groups, individuals and researchers to help in the advancement of research in over 7,000 rare diseases. The registry is free for patients to enroll and researchers to access.
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After these steps, the enrollment process is complete. All other questions are voluntary. However, these questions are important to patients and their families to create awareness as well as to researchers to study rare diseases. This is why we ask our participants to update their information annually or anytime changes to their information occur.
Researchers can contact CoRDS to determine if the registry contains participants with the rare disease they are researching. If the researcher determines there is a sufficient number of participants or data on the rare disease of interest within the registry, the researcher can apply for access. Upon approval from the CoRDS Scientific Advisory Board, CoRDS staff will reach out to participants on behalf of the researcher. It is then up to the participant to determine if they would like to join the study.
Visit sanfordresearch.org/CoRDS to enroll.
UNM Pediatrics Hem/Onc
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