Table of contents
gives six well-known forms of the Hämophilie:
- Hämophilie A (X-chromosomal-rezessiv hereditary coagulating defect): Of it almost exclusively men are concerned, since these possess only one X-Chromosom, while women of it possess two. Hereit comes to a lack at factor VIII (antihämophiles Globulin).
- Hämophilie B with lack of factor IX (Christmas factor) of the so-called. “Coagulating cascade “with different processes from birth (with difficulty, moderately severe, easily). By this lack the blood clotting can only very muchslowly run off - likewise X-chromosomal-rezessive transmission -.
- The very rare autosomal rezessiv hereditary coagulating defect (e.g. Stuart Prower factor lack, factor X of the coagulating cascade) can mint itself with both sexes directly strongly, there with both sexes directly many Autosomen (non-sex-bound Chromosomen) occur.
- Parahämophilie (Hypoproakzelerinämie,Owren syndrome): autosomal rezessiv hereditary illness by lack of the coagulating factor V (Proakzelerin).
- Angiohämophilie (Willebrand Jürgens syndrome): It is most frequent autosomal dominance left hemorrhagic dia. thesis, it comes by a structure defect of the factor VIII of different development.
- Hämophilie C (Rosenthal syndrome): Here factor XI (PTA) is missing to the coagulating cascade,so that v.a. arise to bleedings in joints with children easily or with minimum injuries. The usual coagulating tests (Quick among other things) fall here often irritate-prove normally out.
occur to process bleedings in each strongly supplied with blood fabric. The first bleedingin a joint (also called initial bleeding), frequently by (EN) an accident/a trauma is caused. The large joints are particularly concerned. By the joint interior skin (Synovia) enzymes are set free, which diminish the blood in the joint. With large volume Ergüssenbecomes larger the Synovia for it and becomes more strongly with blood vessels pulled through. From this a higher probability of following bleedings or inflammations follows. A cycle is set by inflammations and bleedings on; the smallest effort knows joint bleedings (usually kneeling, elbow, shoulderor Hüftblutungen) to the consequence have, which is connected always also with strong pain, sometimes by the whole duration of the bleeding. A bleeding caused by accident can be held only by fastest possible assistance and gift by coagulating factors within limits. Is thisAssistance in time possible, cannot mean (also with less heavy injuries) death by bleeding. The consequences of the frequent bleeding events are at older classes (there effective preventive therapies only for approximately 30 years are available) joint reinforcements partially. heaviest kind,early Arthrose - (those possibly. operational interferences like e.g. Kneeling Arthroskopie, Synovektomie up to the endoprosthesis (joint replacement) in addition, orthopedic aids (orthopedic shoes), going assistance and others) makes, - as well as false formations of the musculature and the structure of bone necessary, whereby the mobilitythe joints by constant Physiotherapie on a certain load factor to be held, or in addition, improved can. Cutting and tearing and less also grazes can to strong Blutverlust, to the Ausbluten lead (depending upon size of the injury), also without outside effectit can subkutanen to or come intramuskulären Hämatomen. The danger of internal bleedings is likewise more highly than being normally classified- (e.g. Kidney bleedings with strong colic (catch of the urinary passages by Thromben)).
the earlier (until before approximately 30 years) common therapy with Hämophilie bleedings to stop, consisted generally of it, direct donation of blood, units of stored blood or blood plasma with stronger andto give acute bleedings, Hämatome to cool to also bring and bleeding wounds from cattle blood to won Fibrin to coagulating which succeeded relatively rarely.
The today's therapy exists to substitute generally therein preventively the missing or defective factor, whereby bleedingsto be as far as possible excluded can, and the patient a relatively normal life to lead can, but e.g. from kinds of sport such as Athletik, boxes, winter sports and extreme physical load to refrain must. The therapy e.g. takes place. in the cases Hämophilie A, B or will Brandt syndrome throughSelf treatment (intravenous) with the missing factors. These factors were won from human blood, whereby in the past among other things also many Bluter with HEAVE, hepatitis C and B and other viruses were infected. The possibility of the infection is today howeverso well impossible, since the blood must be thoroughly examined today and new more reliable methods of the blood cleaning were investigated. Besides the factor VIII (Hämophilie A) is also genetically manufactured today. (S.A. Genetic engineering within this paragraph)
The head complication with the Hämophilie A-therapy lies today in the formation of neutralizing anti-bodies against the factor VIII (FVIII), the so-called inhibitorischen anti-bodies or also restraining bodies. World-wide studies show that about 30% of the treated patients or Blutern inhibitorischeAnti-bodies develop. It is further discussed whether inhibition takes place alone via the blocking of the FVIII activity, or whether it to a increased removal (English: clearance) of the FVIII by the recognition of the anti-bodies comes. The anti-bodies reduce the effect of theadmitted FVIII very strongly, so that the necessary increase of the factor mirror is not reached, and it in the consequence again to bleedings comes. With genetically manufactured products still a large “unknown quantity” remains with the “short” use!
carrier inside for the transmission of the Hämophilie A or B is women. Example: A Trägerin (Konduktorin) of the incorrect gene for the Hämophilie gets sons, with whom the probability is 50%, Bluter to be (see also heiress formation). Getsthis Trägerin of daughters, knows 50% these the gene on the next generation further-leaves without even to be affected by this illness. As soon as these girls have again male descendants, it is then just as possible that this Bluter is. This probabilityin addition, can several generations jump over, if daughters were present as carrier inside again and again. If Bluter get sons, these are not affected by it and the illness is extinguished for the following generations to 99%.
In individual cases is the HämophilieWomen possible. If the father is Bluter and the nut/mother Überträgerin, into 50% of the cases the incorrect X-Chromosom is transferred also by the nut/mother and the Hämophilie thus to manifest itself.
with Hämophilie A and B becamethe defective gene recently decodes and it exists in the future possibly. to repair and make again functional the possibility of this, whereby the gift of the missing factors would be void in the future and the concerning a completely normal life alsonormal coagulating to lead can.
The genetic engineering (a subsection of the biotechnology) brought innovative progress regarding the production of factor viii-preparations. The factor viii-preparations were won until some years ago from the blood plasma by - allegedly - recovering, thus Nichtblutern. By thoseImpurities blood plasma also - to date - unknown viruses (HEAVE and hepatitis C) it came in the eighties to dramatic infections of Hämophilen. In the meantime one can assume well-known viruses are filtered from plasma tables preparations. Certainlyinevitably a residual risk exists regarding newer, unknown quantity viruses. The example bird flu shows that new viruses arise again and again.
It is meanwhile possible to manufacture the blood clotting factor VIII genetically. It is synthesized by machine, isolated in cells from the ovaries from hamsters andcleaned. The preparation developed from it is squirted Hämophilen (blood-get sick), in order to stop bleedings.
For some years there are now however factor viii-preparations, which are manufactured on biotechnological basis. And there are still differences even here whether this exclusively - thus withoutAdditive of human or animal protein plasma -, or however in the production process still plasma (when nutritive solution) takes place is used. The bad experience of the eighties leaves itself as pure, safe a preparation as possible to the Bluter - thus plasma and albumin-free manufactured -wish.
the probably earliest mention of the illness is in 5. Century in the Talmud, which releases from ritual cutting of that boys, two of which brothers died with cutting. In the Middle Ages many noble ones sufferedand members of the king families at Hämophilie, why it received also the name “illness of the kings”. Well-known examples of it are the British king and the Russian Zarenfamilie. Starting point was here the Trägerin of the illness Queen Victoria of England.
Louis Hovy, Karin cure NIC, Mario of Depka: Hämophilie and Orthopädie. An interactive text book. Thieme, Stuttgart/New York, 2004, ISBN 3-13-132981-5. (CD-ROM; starting from Pentium III, Windows 98, audio functionality)
cook Egmont R., Irene Meichsner: BAD BLOOD. The history of a medicine scandal. Hamburg: Hoffmann and Campe, (1990) ² 1993. ISBN 3-455-10312-X.
Web on the left of
- world Ford ration for Hämophilie
- Austrian Hämophilie society
- Swiss Hämophiliegesellschaft
- German Hämophiliegesellschaft
- community of interests Hämophiler
- blood he info. (list of the Hämophilie outpatient clinics in Germany)
- Hämophilie - patient info. ofNetDoktor.at
- blood getting sickness with Haemophilie.org
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