Guidelines for sending material for HbP analysis

The general indications for HbP analysis are:

For thalassemia and HbE carriers: slight or moderate microcytic hypochromic indices, with normal or slightly lower Hb values without iron deficiency or not improving after iron therapy.
For HbS, C en D carriers: in about 2/3 of HbS carriers only slightly abnormal indices are present. For these cases only the family history or the ethnical origin may provide an indication (African, Asiatic, or Mediterranean origin). Also Northern-Europeans may be carriers of abnormal hemoglobin or thalassemia (a-, b-thalassemia and HbD).

For a routine analysis send 10cc of fresh EDTA (Complexon) blood by fast mail every day of the week to the LUMC O&O building, Einthovenweg 20, Leiden. No appointment is needed but a thoroughly filled in request form is essential. The preliminary diagnosis based upon hematological and biochemical results can be given by e-mail or by telephone after approximately 1 week. The formal report including the DNA results will be sent to you by mail in about 3 months, after completion of the DNA analysis. In case of priority (hydrops foetalis or pre-operative HbS diagnosis) a result can be requested by telephone one working day after the sample has been delivered.

For special analysis (Hb-chain synthesis and DNA analysis) send 10 cc of very fresh Li-heparin and 10 cc of EDTA blood. Material for DNA analyses (EDTA blood) can be sent by fast mail without special precautions. The synthesis is done on reticulocytes, which lose their synthetic activity very rapidly and the procedure needs some preparation in advance. Therefore, this analysis is only possible after previous appointment (tel.: +31(0)71-5269800) and on very fresh heparine blood kept in melting ice (not freezing bags!) on it's way to the lab. The synthesis is usually done once a month, on the first Tuesday of the month. Exceptions are possible for special cases or for family analyses. When complexity of special analyses increases, duration can increase to one to more months.

Essential terms to conduct Hb-chain synthesis research
  1. 10cc very fresh li-heparin blood
  2. 10cc very fresh EDTA blood
  3. Collect blood sample on the morning of the day of synthesis, place the tubes in melting ice directly and send by fast mail or by cab to the LUMC O&O building, Einthovenweg 20, Leiden, with a completely filled in request form, delivered before noon
When these terms are not met, synthesis research is not possible.

Yours sincerely,

P.C. Giordano
Hemoglobinopathieën Laboratorium
Afd. Humane en Klinische Genetica
Leids Universitair Medisch Centrum
Einthovenweg 20
P.O.Box 9600, 2300 RC Leiden, Netherlands
Tel.: +31(0)71-5269800
E-mail: P.C.Giordano@Lumc.nl