Sickle cell anaemia
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Sickle cell anemia is an autosomal recessive disease caused by a mutation in the gene controlling the beta chain of hemoglobin. This mutation replaces glutamic acid with valine at the sixth position of the beta chain. Heterozygous carriers appear unaffected but have a 50% chance of passing on the mutant gene, while homozygous individuals experience symptoms like swelling, anemia, jaundice, stunted growth, and vision problems. Treatment includes medications, blood transfusions, and sometimes bone marrow transplants.
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3) Genes can have more than two alleles that are codominant or recessive and determine blood type or other traits.
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Answer The type O structure is found in all three glycosphingolip.pdf
Answer :
The type O structure is found in all three glycosphingolipids.
In both type A and type B, there is an added sugar; this sugar differs between type A and B.
explanation :
The focal rule of the ABO framework is that antigens – in this occasion, sugars physically
uncovered on the outside of red platelets – contrast between people, who have immunological
resistance just toward what happens in their own bodies. Therefore, numerous people express
isoantibodies – antibodies against isoantigens, common parts exhibit in the assemblages of
different individuals from similar species however not themselves. Isoantibodies might be
available against the An and additionally B antigens in individuals who don\'t themselves have
similar antigens in their own particular blood. These antibodies go about as haemagglutinins,
which cause platelets to bunch and break separated in the event that they convey the outside
antigens. This cruel reaction, however a versatile response valuable against disease, can bring
about death when a lot of such cells are experienced after a blood transfusion, a situation not
experienced in normal determination preceding present day history. Since An and B antigens are
artificially adjusted from an antecedent frame that is likewise present in sort O people,
individuals with sort An and B antigens can acknowledge blood from sort O people.
Hostile to An and against B antibodies (called isohaemagglutinins), which are not present in the
infant, show up in the primary years of life. Against An and hostile to B antibodies are generally
IgM sort, which are not ready to go through the placenta to the fetal blood course. O-sort people
can deliver IgG-sort ABO antibodies.
The forerunner to the ABO blood amass antigens, display in individuals of all regular blood
classifications, is known as the H antigen. People with the uncommon Bombay phenotype (hh)
don\'t express antigen H on their red platelets. As the H antigen serves as a forerunner for
delivering An and B antigens, the nonappearance of the H antigen implies that the people do not
have An or B antigens too (like O blood gather). Be that as it may, not at all like O gathering, the
H antigen is missing, thus the people create isoantibodies to antigen H and in addition to both An
and B antigens. In the event that they get blood from somebody with O blood gather, the counter
H antibodies will tie to the H antigen on the red platelets (\'RBC\') of the giver blood and
devastate the RBCs by supplement intervened lysis. In this manner, individuals with Bombay
phenotype can get blood just from other hh benefactors (in spite of the fact that they can give as
if they were sort O). A few people with the blood amass A1 may likewise have the capacity to
deliver against H antibodies because of the total change of all the H antigen to A1 antigen.
Creation of the H antigen, or its inadequacy in the Bombay phenotype, is controlled at the H
locus on chromosome 19. The H locus is not an indistinguish.
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Mendelian diseases are genetic disorders caused by mutations at individual gene loci that are passed down according to Mendelian patterns of inheritance. There are four main types of inheritance: autosomal dominant, autosomal recessive, X-linked dominant, and X-linked recessive. Examples of each type of inheritance pattern and the probability of offspring being affected are provided. Prevention and control of Mendelian diseases includes general health promotion, early diagnosis and treatment, rehabilitation, and genetic counseling.
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- The law of segregation states that each individual has two factors for each trait which segregate during gamete formation such that each gamete contains only one factor.
- The law of independent assortment states that each pair of factors segregates independently of other pairs, resulting in all possible combinations of factors in gametes. Punnett squares can be used to determine possible offspring combinations.
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2. The laws of Mendel including dominance, segregation and independent assortment are explained. Examples of ABO blood groups and Rh factor are provided to illustrate multiple allelism.
3. The importance of understanding blood groups and Rh factor for safe blood transfusions and solving cases of disputed parentage is highlighted.
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Sex-linked disorders involve genes located on the X or Y chromosome. They are more commonly expressed in males because males only have one X chromosome, while females have two X chromosomes providing a backup gene that may counteract a recessive gene. Some examples of sex-linked disorders are color blindness and hemophilia, which are caused by recessive gene mutations on the X chromosome and predominantly affect males who have no second X chromosome to compensate.
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This document discusses gene therapy approaches for severe hemoglobin disorders like sickle cell disease and beta-thalassemia. It describes how lentiviral vectors encoding erythroid-specific expression of gamma- or beta-globin genes have been developed and tested in mouse models, showing promise in curing these diseases. Clinical trials are also emerging with positive results, though safety and efficacy must be consistently achieved before this can become a cure. Alternative strategies like reactivating endogenous gamma-globin expression or correcting beta-globin mutations are also discussed.
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Sickle cell disease is a genetic blood disorder caused by a mutation in the beta-globin gene. This mutation causes red blood cells to take on a rigid, sickle shape which can cause episodes of pain and organ damage. The disease manifestations can range from asymptomatic to potentially lethal. Common clinical features include painful vaso-occlusive crises affecting the bones and organs, acute chest syndrome, splenic sequestration, and chronic organ damage to tissues like the lungs, kidneys, and eyes. The inheritance of sickle cell disease and its variants depends on whether a person inherits one or two copies of the sickle beta-globin gene.
Answer The type O structure is found in all three glycosphingolip.pdf
Answer :
The type O structure is found in all three glycosphingolipids.
In both type A and type B, there is an added sugar; this sugar differs between type A and B.
explanation :
The focal rule of the ABO framework is that antigens – in this occasion, sugars physically
uncovered on the outside of red platelets – contrast between people, who have immunological
resistance just toward what happens in their own bodies. Therefore, numerous people express
isoantibodies – antibodies against isoantigens, common parts exhibit in the assemblages of
different individuals from similar species however not themselves. Isoantibodies might be
available against the An and additionally B antigens in individuals who don\'t themselves have
similar antigens in their own particular blood. These antibodies go about as haemagglutinins,
which cause platelets to bunch and break separated in the event that they convey the outside
antigens. This cruel reaction, however a versatile response valuable against disease, can bring
about death when a lot of such cells are experienced after a blood transfusion, a situation not
experienced in normal determination preceding present day history. Since An and B antigens are
artificially adjusted from an antecedent frame that is likewise present in sort O people,
individuals with sort An and B antigens can acknowledge blood from sort O people.
Hostile to An and against B antibodies (called isohaemagglutinins), which are not present in the
infant, show up in the primary years of life. Against An and hostile to B antibodies are generally
IgM sort, which are not ready to go through the placenta to the fetal blood course. O-sort people
can deliver IgG-sort ABO antibodies.
The forerunner to the ABO blood amass antigens, display in individuals of all regular blood
classifications, is known as the H antigen. People with the uncommon Bombay phenotype (hh)
don\'t express antigen H on their red platelets. As the H antigen serves as a forerunner for
delivering An and B antigens, the nonappearance of the H antigen implies that the people do not
have An or B antigens too (like O blood gather). Be that as it may, not at all like O gathering, the
H antigen is missing, thus the people create isoantibodies to antigen H and in addition to both An
and B antigens. In the event that they get blood from somebody with O blood gather, the counter
H antibodies will tie to the H antigen on the red platelets (\'RBC\') of the giver blood and
devastate the RBCs by supplement intervened lysis. In this manner, individuals with Bombay
phenotype can get blood just from other hh benefactors (in spite of the fact that they can give as
if they were sort O). A few people with the blood amass A1 may likewise have the capacity to
deliver against H antibodies because of the total change of all the H antigen to A1 antigen.
Creation of the H antigen, or its inadequacy in the Bombay phenotype, is controlled at the H
locus on chromosome 19. The H locus is not an indistinguish.
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GENE SEGREGATION & INTEGRATION
A. Law of Segregation
•B. Law of Independent Assortment
•C. Segregation and Assortment in Haploid Organisms
•D. Dominance Relationship
•E. Multiple Alleles
•F. Lethal Genes
Genetic Diseases: Is it sometimes benefits?
1. Genetic diseases like thalassemia, sickle cell trait, and G6PD deficiency can provide resistance to certain infectious diseases like malaria.
2. For example, individuals with sickle cell trait have some protection against malaria, as the infected red blood cells tend to sickle and be removed from the body, preventing the parasite from spreading.
3. Similarly, those with thalassemia or G6PD deficiency may have enhanced immune responses that kill the malaria parasite. This has led scientists to study these genetic mechanisms of disease resistance to inform new therapies.
Hemoglobinopathy
This document summarizes the molecular basis of hemoglobin disorders and sickle cell disease. It discusses hemoglobin genes, structure, and variants. Key points include: hemoglobin is a tetramer of alpha and non-alpha chains; sickle cell disease is caused by a single point mutation resulting in hemoglobin S; hemoglobin S polymerizes under low oxygen conditions, causing red blood cells to sickle. Clinical manifestations of sickle cell disease include anemia, pain crises, organ damage. Treatment focuses on pain management, transfusions, and hydroxyurea to raise fetal hemoglobin levels. New therapies aim to correct the genetic defect through gene therapy or induced pluripotent stem cells.
The hemoglobin E thalassemias
Hemoglobin E beta-thalassemia is caused by coinheritance of the hemoglobin E structural variant and a beta-thalassemia mutation. It has wide clinical heterogeneity, ranging from asymptomatic to life-threatening. Factors influencing severity include the specific beta-thalassemia mutation, coinheritance of alpha-thalassemia, levels of fetal hemoglobin, amounts of abnormal hemoglobin E mRNA splicing, and environmental exposures like malaria. Treatment depends on symptoms and severity, with regular blood transfusions for more severe cases and options like hydroxyurea or bone marrow transplantation in some situations.
Sickle Cell Disease Market Growth factors and Market Forecast 2030
Sickle cell disease is an inherited red blood cell disorder caused by a structural abnormality of hemoglobin called sickle hemoglobin. It is most common among those of African descent, affecting around 1 in 365 Black or African American births. The sickle hemoglobin polymerizes and causes red blood cells to deform when oxygen levels decrease, resulting in anemia, recurrent pain episodes, organ damage, and other symptoms. Treatment involves managing pain, treating infections, and in some cases stem cell transplants or gene therapy to potentially cure the condition. Several pharmaceutical companies are developing new drugs to treat sickle cell disease.
Thalassemia
This document discusses thalassemia, specifically alpha and beta thalassemia. It describes the genetics, pathophysiology, clinical presentations, and laboratory diagnosis of the different types. The main points are:
1) Thalassemia results from inherited abnormalities in globin chain production, causing excess unpaired chains. Alpha thalassemia affects alpha chain production, while beta thalassemia affects beta chain production.
2) There are different clinical syndromes for each type depending on the severity of the genetic mutation, ranging from silent carriers to severe anemia requiring transfusions.
3) Laboratory testing helps diagnose and classify the specific type of thalassemia based on hemoglobin electrophoresis
Haemoglobinopathies
The document discusses haemoglobin disorders and haemoglobinopathies. It provides details on the molecular basis, inheritance patterns, clinical presentation and diagnosis of conditions like thalassaemia, sickle cell disease and other haemoglobin variants. Key points include that haemoglobin disorders are globally common due to ancestral mutations, are usually inherited in an autosomal recessive pattern, and can be diagnosed through blood tests, family history and molecular genetic analysis. Screening programs have helped identify carriers and provide prenatal diagnosis services.
ABO Blood Grouping
This document discusses multiple alleles and the ABO blood grouping system. It begins by defining alleles and describing how multiple alleles can exist for a single gene. It then focuses on explaining the ABO blood grouping system, which is controlled by three alleles (IA, IB, IO) that determine the A, B, and O blood types. The document outlines the antigens and antibodies present in each blood type, as well as rare blood types like Bombay and Rhnull. It also discusses cross-matching for transfusions and potential sources of errors or mutations in blood group transmission.
Recombination Final.ppt
Recombination
Breaking and rejoining of two parental DNA molecules to produce new DNA molecules
Types of recombination
Definition of recombination
Gene Conversion – Characteristics
Holliday model
Holliday junction cleavage
Haemoglobinopathies sickle cell anemia
Sickle cell anemia is caused by a genetic mutation that results in abnormal hemoglobin called HbS. When HbS is deoxygenated, it polymerizes inside red blood cells, causing them to take on a sickle or holly leaf shape. This leads to hemolysis, anemia, vaso-occlusive crises involving painful blockages in small blood vessels, and organ damage. The condition is most common where malaria is endemic, as the sickle cell trait provides resistance to that disease. Laboratory testing can demonstrate sickle cells on blood smears and the presence of HbS on electrophoresis.
Hemoglobinopathies
This document summarizes different types of hemoglobinopathies and thalassemias. It describes normal adult hemoglobins and the two major disorders - qualitative hemoglobinopathies caused by structural mutations like sickle cell anemia, and quantitative hemoglobinopathies caused by reduced globin chain synthesis like thalassemias. Sickle cell disease results from a glutamic acid to valine substitution and causes polymerization of deoxygenated hemoglobin. Thalassemias are caused by alpha or beta globin chain deficiency. Beta thalassemia major involves homozygosity for beta thalassemia genes and requires frequent blood transfusions. Alpha thalassemia ranges from silent carrier state to Bart's hydrops
Variation and Mutation.pdf
This document discusses genetic variation and its causes. It defines genetic variation as differences in genetic makeup between individuals in a population. Genetic variation arises through mutation, gene flow, and sexual reproduction. Mutation refers to changes in DNA sequences that can result from substitutions, additions, or deletions of base pairs. Gene flow introduces new genes through migration. Sexual reproduction combines genes from parents in new ways. Genetic variation is important for evolution as it provides variation for natural selection to act upon. Variation can be discontinuous, with clear categories, or continuous, with gradual differences. Both types have genetic bases but involve different numbers and effects of gene loci.
Hemoglobin types and associated diseses
Hemoglobin types can be associated with various diseases. Hemoglobin S causes sickle cell disease where red blood cells become rigid and crescent shaped, blocking vessels. Sickle cell trait carriers have one normal and one abnormal beta chain. Hemoglobin E causes mild anemia and spleen enlargement in those with two copies, while one copy usually does not cause symptoms. Hemoglobin C disease causes minor anemia and spleen enlargement in homozygotes. Hemoglobin H occurs in alpha thalassemia and is unstable, forming solid structures in red blood cells. Hemoglobin F is elevated in some disorders and provides protection against sickling in sickle cell disease.
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Sickle cell anaemia
- 1. By:-Name- Mohd Tahseen ID-BPH2017074 Roll No. 1710601065
- 3. It is autosomal recessive disease therefore it can be transmitted from parents to offspring when both male and female individuals are carrier(heterozygous) for the genes. The disease is controlled by a single pair of allele, Hb and Hb
- 4. (i) Hb Hb (Normal, homozygous) (ii) Hb Hb (Normal, carrier) (iii)Hb Hb (Diseased, die before attaining maturity)
- 5. Heterozygous individuals appear apparently unaffected but they are carrier of the disease as there is 50% probability of transmission of the mutant gene to the progeny, thus exhibiting sickle cell trait.
- 6. The defect is caused by mutation (transversion) of the gene controlling β-chain of Hb. The mutated gene is called Hb. Hb causes one change in AA sequence of β-chain. It replaces glutamic acid (Glu) present at 6th position of the β-chain by AA valine (Val). The mutant Hb molecules undergo polymerisation under low O2 tension causing the change in the shape of RBC from biconcave disc to elongated sickle like structure.
- 8. NOTE:- Heterozygous individuals have no sign as well as no symptom. In homozygous condition:- (i) Swelling of hand & feet (ii) Anemia (iii) Yellowish skin due to the presence of bilirubin released in blood. (iv) Delayed growth (v) Vision problem
- 9. •Medication:-Narcotic, Chemotherapy, Vitamins . •Blood transfusion. •Rarely bone-marrow transfusion.