By Andrew Blann, Nessar Ahmed
This booklet is approved by means of the Institute of Biomedical technology and written via its specialist writers, lots of whom paintings at the Institute’s advisory panels.
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Extra info for Blood Science: Principles and Pathology
Almost all congenital disease (present at birth or noted in the immediate neonatal period) is genetic, and in some cases will need to be formally confirmed with molecular genetics. 4. Non-genetic congenital diseases will generally have been acquired from the mother, and these are generally metabolic and infectious diseases, such as some types of diabetes, HIV infection and syphilis. Others may be caused by drugs taken during pregnancy, such as thalidomide and warfarin, or perhaps by lack of adequate nutrition, such as the relationship between folic acid and neural tube defects.
Group AB people have no anti-A or anti-B antibodies in their plasma, but group O people have both anti-A and anti-B antibodies. 3. The second most important blood group system is the rhesus (Rh) system. It is very much more complicated, being composed of over 40 recognized glycoproteins, although on a day-to-day basis five different structures on the surface of the blood cell are commonly dealt with in the blood bank. e. RhD). 3 ABO blood group factors. Antigenic structures on the red cell surface Antibodies in the plasma A B AB O Anti-B Anti-A No antibodies Anti-A and Anti-B between the ABO and Rh systems is that, in the normal person, there are always anti-A and anti-B antibodies in the absence of reciprocal molecules on the red blood cell surface (which makes ABO incompatibility potentially fatal), but people with the D molecule on the red cell surface do not have a corresponding antibody in the plasma.
The preceding section has introduced the value of genetics in many different types of diseases, including cancer. Indeed, it could be argued that clinical genetics is in fact a collection of methods called on by pathologists to help with diagnosis. Accordingly, this textbook will not have a separate chapter on genetics. Instead, each individual chapter will emphasize genetics where and when it is appropriate. Examples of the impact of genetics in the other blood sciences include: haemoglobinopathy, leukaemia, haemophilia, von Willebrand’s disease, Factor V Leiden, and hereditary haemochromatosis in haematology; alpha-1-trypsin deficiency, LDL cholesterol receptor, cystic fibrosis and 21-hydroxylase deficiency in biochemistry; ABO and rhesus blood groups in transfusion science; the heritability of autoimmune disease, X-linked agammaglobuminaemia, variation in human leukocyte antigens (HLAs), and DiGeorge syndrome in immunology.