paul suffered from hemophilia a a genetic disorder where he inherited a mutated gene for factor

Name: paul suffered from hemophilia a a genetic disorder where he inherited a mutated gene for factor viii an essential clotting protein his condition is a more severe type he was diagnosed at the 51835
Uploaded: 2022-05-31T14:28:08-08:00
Duration: 4 min 6 s
Channel: Adi S
Description: paul suffered from hemophilia a a genetic disorder where he inherited a mutated gene for factor viii an essential clotting protein his condition is a more severe type he was diagnosed at the 51835

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Six-month-old Alan had been bruising easily, and the bruises persisted for an unusually long time. His parents took him to a clinic to be evaluated. At first, the doctors and nurses suspected that Alan's parents might be abusing him! After much testing, though, they determined that Alan has severe hemophilia. The doctor sent Alan's parents to a genetic counselor. The counselor explained that Alan's mother is a carrier of the hemophilia factor VIII gene mutation and that she passed the trait to Alan. Because it is a sex-linked gene, Alan's mother does not show symptoms; however, all of her sons will. In 1952, it was determined that there are two types of hemophilia (types a and b). Historically, boys with either type of hemophilia tended to live shortened lives. Even seemingly minor injuries or bruising led to excessive bleeding and complications. Alan's doctor explained that Alan will be able to take factor VIII and be able to live a normal life. Alan's mother remembers that she had an uncle who was a hemophiliac and died of AIDS from the blood concentrates he was given in the 1970s. The doctor explains that early treatments (1950s and 1960s) for hemophilia consisted of giving whole blood or fresh plasma. Those treatments helped to an extent, but did not contain enough of the necessary factor VIII or IX proteins to be completely effective. In the 1960s and 1970s, concentrates of factors VIII and IX became available. Those revolutionary freeze-dried concentrates allowed for at-home treatment and made it possible for hemophiliacs to travel and enjoy more normal life. These freeze-dried concentrates included proteins from many different blood donations. Sadly, in the early 1980s, HIV was diagnosed in some hemophiliacs who used the blood concentrates. Within five years, the product was pulled off the market in the U.S. By that time, a large percentage of hemophiliacs were infected with HIV. The doctor reassured Alan's parents that current blood concentrates and factor VIII injections are free of deadly viruses due to the improved methods for producing synthetic factor VIII. 1. How does the mutated factor VIII gene cause hemophilia? 2. Why are blood concentrates safe now? 3. Why is the hemophiliac mutation called the "Royal Gene"? 4. How is synthetic factor VIII produced?

Adi S.

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Case Study: Alan Six-month-old Alan had been bruising easily, and the bruises persisted for an unusually long time. His parents took him to a clinic to be evaluated. At first, the doctors and nurses suspected that Alan's parents might be abusing him! After much testing, though, they determined that Alan has severe hemophilia. The doctor sent Alan's parents to a genetic counselor. The counselor explained that Alan's mother is a carrier of the hemophilia factor VIII gene mutation and that she passed the trait to Alan. Because it is a sex-linked gene, Alan's mother does not show symptoms; however, all of her sons will. In 1952, it was determined that there are two types of hemophilia (types a and b). Historically, boys with either type of hemophilia tended to live shortened lives. Even seemingly minor injuries or bruising led to excessive bleeding and complications. Alan's doctor explained that Alan will be able to take factor VIII and be able to live a normal life. Alan's mother remembers that she had an uncle who was a hemophiliac and died of AIDS from the blood concentrates he was given in the 1970s. The doctor explains that early treatments (1950s and 1960s) for hemophilia consisted of giving whole blood or fresh plasma. Those treatments helped to an extent, but did not contain enough of the necessary factor VIII or IX proteins to be completely effective. In the 1960s and 1970s, concentrates of factors VIII and IX became available. Those revolutionary freeze-dried concentrates allowed for at-home treatment and made it possible for hemophiliacs to travel and enjoy more normal life. These freeze-dried concentrates included proteins from many different blood donations. Sadly, in the early 1980s, HIV was diagnosed in some hemophiliacs who used the blood concentrates. Within five years, the product was pulled off the market in the U.S. By that time, a large percentage of hemophiliacs were infected with HIV. The doctor reassured Alan's parents that current blood concentrates and factor VIII injections are free of deadly viruses due to the improved methods for producing synthetic factor VIII. 1. How does the mutated factor VIII gene cause hemophilia? 2. Why are blood concentrates safe now? 3. Why is the hemophiliac mutation called the "Royal Gene"? 4. How is synthetic factor VIII produced?

Adi S.

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clotting protein, Factor VIII: He gets weekly injections of the normal version of Factor VIII, so he doesn't get nosebleeds anymore: 1a. Why do people with hemophilia have more severe nosebleeds? Either of the two types of factors is absent in people with hemophilia. When a person has hemophilia, he lacks one of the clotting factors he requires to form a clot, and he bleeds for longer than he should. 1b. Why don't most of us need injections of Factor VIII to prevent nosebleeds? Uncle Carlos explains that Tony has probably inherited a gene for hemophilia. What is a gene? How can a gene cause hemophilia?" To learn the answers, read the following. A gene is a segment of DNA that gives the instructions for making a protein. Different versions of a gene can result in different versions of the protein. Different versions of the protein result in different characteristics. This chart shows how different versions of the clotting protein, Factor VIII, can result in normal health or hemophilia. Gene in DNA Protein When a blood vessel is injured, One version of a gene gives normal clotting proteins that result in blood clot formation. Another version of the gene gives instructions for making defective clotting protein that results in very slow blood clot formation.

Madhur L.

Transcript

00:01 Hemophilia.

00:03 It is the inherited bleeding disorder in which the blood does not clot properly.

00:12 Here the spontaneous bleeding is seen as well as bleeding following injuries or surgery were also observed.

00:22 Blood clotting factors 8 and 9 were normally found in blood whereas it is at the 3.

00:32 Low levels in case of hemophilia patients.

00:37 They are caused by mutation in one of the genes that codes for making blood clotting factor protein 8 and 9.

00:49 This mutation prevents the clotting protein production.

00:54 These genes are found in x chromosomes.

00:59 Generally, male has 1x and 1.

01:02 1 y chromosome and female has 2 x chromosomes.

01:07 Male inherits x from their mother and y from their father.

01:14 In females they inherit x chromosome from each parent.

01:19 Here in this scenario given the unaffected male is grossed with affected female...

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