What are Atransferrinemia and Apotransferrin?
Congenital
atransferrinemia (hypotransferrinemia) is a very rare disease which consists
of an absence of transferrin, a plasma protein that transports iron through
the blood. This disease is characterized by a mycrocitic hypochromic anemia,
and an iron deposition in the heart and liver (hemosiderosis). Four out
of the nine atransferrinemia patients in the world were still alive in
the last report (Beutler
2000). Three out of these four patients were treated with purified
apotransferrin. Thus it is crucial getting apotransferrin for
congenital atransferrinemia patients.
Violet
is a four years old baby and she has congenital atransferrinemia.
She is a patient of Hospital
de la Vall d'Hebron (Barcelona - Spain), and an apotransferrin treatment
for compassionate use has been decided.
After the first plasma and blood tranfusions, hemoglobin was around 9.7, transferrin around 10, ferritin over 1400 and GOT around 300, with the beginning of an hemosiderosis detected. With three apotransferrin grams hemoglobin has raised to 12,5, transferrin has peaked to 120, ferritin levels have decreased to 200, and hepatic enzymes have returned to normality.
The last apotransferrin stock has been found in Finland, and despite being it enough, its sell-by date is April 07. We have been informed that no more apotransferrrin will be produced in Finland because they disrupt their plasma fractinating activities. Nevertheless, the personal efforts of managers and employees at BTS-Finnish Red Cross have made possible to have a last apotransferrin batch available for Violet. With this last batch Violet will have enough medicine until 2008.
- Information on atransferrinemia (full text articles) and compassionate use treatments (laws and rules).
- Information on apotransferrin (Product specification sheets and Patents full descridbed).
- Extensive description about Violet's Clinical Evolution (Hb, TF, GOT,... in real time)
- Updated information on what is the Pharma Industry doing in Violet's fight for getting apotransferrin
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Atransferrinemia
