Blood Groups and Their Polymorfisms Kuliah FKUI Kelas Internasional Rosila Idris Department of Medical Biology, Faculty of Medicine, University of Indonesia

Blood Groups (1) Blood groups ABO and Rh (polymorphism) are known as Blood groups ABO and Rh (polymorphism) are known as antigens of red blood cells. antigens of red blood cells. Polymorphism : Two or more alternative genotypes accur together in a population in a population Genotype Phenotype Antibodies in Cells react with Genotype Phenotype Antibodies in Cells react with Serum Serum IoIo O anti-A, anti B neither IoIo O anti-A, anti B neither IAIA A anti-B anti- A IAIA A anti-B anti- A IAIo A anti-B anti-A IAIo A anti-B anti-A IBIB B anti-A anti-B IBIB B anti-A anti-B IBIo B anti- A anti-B IBIo B anti- A anti-B IAIB AB neither anti-A, anti-B IAIB AB neither anti-A, anti-B Genotype A and B = codominant

Blood Groups (2) ABO Genotypes and Serum Reactivity Red blood cell Reaction with Reaction with Antibodies Phenotype anti-A anti-B in Serum _______________________________________________________ O - - anti-A,anti-B O - - anti-A,anti-B A + - anti-B A + - anti-B B - + anti-A B - + anti-A AB + + neither AB + + neither_______________________________________________________ - represents no reaction; + represents reaction

Blood Groups (3) Genotypes, Phenotypes, and frequencies in the ABO Blood-Typing System in the ABO Blood-Typing System_______________________________________________________ Genotype Blood Type A Antigen B Antigen Frequency in (Phenotype) Present Present U.S. White (Phenotype) Present Present U.S. White Population (%) Population (%)_______________________________________________________ IAIA or IAIo A IBIB or IBIo B IAIB AB IoIo O

Blood Groups (4) ABO Blood Groups : mulptiple alleles ABO Blood Groups : mulptiple alleles Allele: Alternative form of a gene. Allele: Alternative form of a gene. IAIo or IAIa, Ia allele of IA IAIo or IAIa, Ia allele of IA IBIo or IBIb, Ib allele of IB IBIo or IBIb, Ib allele of IB I = Isohemagglutinin. I = Isohemagglutinin. Multiple Human Alleles is in ABO blood group, this is Multiple Human Alleles is in ABO blood group, this is the best known of all the red-cell antigen system by the best known of all the red-cell antigen system by Karl Landsteiner Karl Landsteiner 1900.

Blood Groups (5) Molecular Genetic Basis of the ABO System Molecular Genetic Basis of the ABO System The ABO blood groups are determined by a locus on chromosome 9. The ABO blood groups are determined by a locus on chromosome 9. Benefit : Benefit : 1. Importance in blood transfusions 1. Importance in blood transfusions 2. Paternity test 2. Paternity test 3. Tissue transplantation 3. Tissue transplantation

The Rhesus System (1) The Rhesus antigens are far greater importance than any others In the causation of haemolytic disease of the foetus and newborn The locus Rh occur on chromosome 1 Mother Rhesus negative (Rh -) Mother Rhesus negative (Rh -) Father Rhesus positive (Rh +) Father Rhesus positive (Rh +) Parental phenotype Rh_+ X Rh - Parental phenotype Rh_+ X Rh - genotype DD/Dd X dd genotype DD/Dd X dd Filial (foetus) Rh + Filial (foetus) Rh + Foetus : Rhesus haemolytic disease, the mother will form anti Rh + (antibodies) that return to the fetal circulation

The Rhesus System (2) Hemolytic Disease of the newborn (Erythroblastosis Fetalis) Damage the fetal red blood cells, causing hemolytic disease of the newborn Damage the fetal red blood cells, causing hemolytic disease of the newborn Symptom: Mild, moderate to severe Symptom: Mild, moderate to severe ( first pregnant, second pregnant and third pregnant) ( first pregnant, second pregnant and third pregnant) Treated : transfusion Treated : transfusion