One of your patients, a six-year-old girl who suffers from Sickle cell anemia, an inherited blood disorder in which red blood cells are abnormally shaped and fragile, leading to a short supply of red blood cells. These abnormal cells can also get stuck
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One of your patients, a six-year-old girl who suffers from Sickle cell anemia, an inherited blood disorder in which red blood cells are abnormally shaped and fragile, leading to a short supply of red blood cells. These abnormal cells can also get stuck in small vessels, which prevent blood flow, leading to fatigue, pain and other severe complications.
Sickle cell anemia is an autosomal recessive disorder. Neither of your patient's parents has sickle cell anemia. What is the most likely genotype of her parents? (The normal beta-globin allele is abbreviated as B, and the abnormal allele as b.)
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- A couple is planning a family, but since each has a brother having the sickle-cell disorder, they are worried that their kids might develop the disorder too. Neither of them nor their respective parents have the disorder. Which of the following will be your smartest advice as a genetic counsellor? One of four of their children can be expected to have sickle cell. It is possible that none of their kids will have the disorder, but tests should be carried out on both of them to confirm. All of their children will have sickle-cell disorder. There is no chance of any of their kids having sickle cell.Huntington’s disease, a neurodegenerative genetic disorder that typically becomes noticeable in middle age, is due to an autosomal dominant allele. Sickle cell anemia, on the other hand, is a genetic blood disorder due to a recessive allele. Mary is a carrier of the allele for sickle cell anemia but has no sign of any neurodegenerative disorder in her family. She married Paul whose father died of Huntington’s disease. His mother, however, is not inflicted with that condition. Neither of his parents exhibits sickle cell anemia. What are the genotypes of Jane and Paul? If they plan to have four children, what is the probability that: all their children will be normal? _________________________________ they will have a son with Huntington’s disease? _________________________ they will have a daughter inflicted with both conditions?________________Huntington’s disease, a neurodegenerative genetic disorder that typically becomes noticeable in middle age, is due to an autosomal dominant allele. Sickle cell anemia, on the other hand, is a genetic blood disorder due to a recessive allele. Jane is a carrier of the allele for sickle cell anemia but has no sign of any neurodegenerative disorder in her family. She married Paul whose father died of Huntington’s disease. His mother, however, is not inflicted with that condition. Neither of his parents exhibit sickle cell anemia. What are the genotypes of Jane and Paul? If they plan to have four children, what is the probability that: all their children will be normal? _________________________________ they will have a son with Huntington’s disease? _________________________ they will have a daughter inflicted with both conditions?________________
- Huntington’s disease, a neurodegenerative genetic disorder that typically becomes noticeable in middle age, is due to an autosomal dominant allele. Sickle cell anemia, on the other hand, is a genetic blood disorder due to a recessive allele. Jane is a carrier of the allele for sickle cell anemia but has no sign of any neurodegenerative disorder in her family. She married Paul whose father died of Huntington’s disease. His mother, however, is not inflicted with that condition. Neither of his parents exhibit sickle cell anemia. What are the genotypes of Jane and Paul? Jane:______________________________Paul:_____________________________ If they plan to have four children, what is the probability that: all their children will be normal? _________________________________ they will have a son with Huntington’s disease? _________________________ they will have a daughter inflicted with both conditions?________________Huntington’s disease, a neurodegenerative genetic disorder that typically becomes noticeable in middle age, is due to an autosomal dominant allele. Sickle cell anemia, on the other hand, is a genetic blood disorder due to a recessive allele. Jane is a carrier of the allele for sickle cell anemia but has no sign of any neurodegenerative disorder in her family. She married Paul whose father died of Huntington’s disease. His mother, however, is not inflicted with that condition. Neither of his parents exhibits sickle cell anemia. What are the genotypes of Jane and Paul?Sickle cell anemia is caused by an individual carrying two recessive copies of the hemoglobin gene (hemoglobin gene is labeled Hb, and the recessive version is Hbs). Thus, to have sickle cell anemia, a person must have the genotype HbSHbS. A person that is HbAHbA carries two copies of the normal hemoglobin gene and does not have sickle cell anemia. A person that is heterozygous (HbAHbS) produces enough normal hemoglobin to not have sickle cell anemia but is also resistant to malaria. People that are heterozygous are called “carriers” because they carry the recessive allele but do not express the recessive phenotype. a. A couple are both resistant to malaria but do not have sickle cell anemia. Draw a Punnett square to represent this cross. b. What is the probability that the couple has three children where one child does not have a recessive allele, one child is resistant to malaria and does not have sickle cell anemia, and one child has sickle cell anemia?
- Sickle-cell disease is an autosomal recessive genetic disorder. How many mutated hemoglobin alleles do people with sickle-cell disease have?Huntington’s disease is an autosomal dominant disease in humans, but the first symptoms usually don’t appear until after the age of 30. If Aethelbert inherited one copy of this gene from his mother, what is the chance of him passing it on to his children?The attached image is a pedigree of a family with a history of sickle cell anemia (the individuals with the filled-in symbols have the disease and no new mutations are occurring in any individual). Sickle cell anemia is inherited in an autosomal recessive manner. What is the probability that the individual with the question mark (?) will get the disease? a) 1/4 b) 1/2 c) 2/3 d) 1
- Porphyria is a genetic disorder caused by the inability to properly metabolize a component of hemoglobin. King George III is suspected to have been afflicted with this disorder. Assume that both George and his Queen suffered from this disorder and they had one afflicted child and one normal child. Is porphyria inherited in a dominant or recessive fashion? What must be the genotype of both George and his Queen? Using punnett square, show ALL work used to achieve your answer.Victoria’s youngest child, Beatrice, gave birth to one daughter, one normal son, and two hemophilic sons. **Based on the pedigree, Alfonso XIII of Spain is phenotypically normal. Does that mean he received the normal gene from Beatrice? Why or Why not?**Hereditary hemochromatosis is an autosomal recessive genetic disorder that causes the body to absorb too much iron from the diet. This excess iron is stored in the body's tissues and organs, particularly the skin, heart, liver, pancreas, and joints. Because humans cannot increase the excretion of iron, excess iron can overload and eventually damage tissues and organs. A man who had hemophilia (an X-linked recessive genetic disorder), married a woman who had no family history of hemophilia whatsoever. The couple had consulted a genetic counselor when they first contemplated having children due to concerns that their future children might have hemophilia. Genetic testing of both future parents revealed that the husband did, in fact, possess the Hemophilia A allele but his wife was completely normal with respect to hemophilia. Much to their shock, their first child, a daughter, had a mild blood clotting disorder. Karyotyping was performed to determine whether this daughter had an…
