genetic basis of hemophilia
-
Upload
annie-mirza -
Category
Health & Medicine
-
view
1.599 -
download
1
Transcript of genetic basis of hemophilia
![Page 1: genetic basis of hemophilia](https://reader036.fdocuments.in/reader036/viewer/2022082808/55655303d8b42a9a3a8b45e0/html5/thumbnails/1.jpg)
GENETIC BASIS OF HEMOPHILIA
![Page 2: genetic basis of hemophilia](https://reader036.fdocuments.in/reader036/viewer/2022082808/55655303d8b42a9a3a8b45e0/html5/thumbnails/2.jpg)
“A group of hereditary genetic disorder that impair the body's ability to control blood clotting or coagulation, which is used to stop bleeding when a blood vessel is broken.”
In the whole history of hemophilia, the Jews were first to recognize it. The hemophilia blood disorder became known as the royal disease because Queen Victoria was a carrier.
Hemophilia
![Page 3: genetic basis of hemophilia](https://reader036.fdocuments.in/reader036/viewer/2022082808/55655303d8b42a9a3a8b45e0/html5/thumbnails/3.jpg)
Hemophilia A - Classic Hemophilia orFactor VIII deficiency (80%
cases) Haemophilia B - Christmas Disease or
Factor IX deficiency (20% cases)
Haemophilia C – Acquired Hemophilia or coagulant factor XI deficiency (very rare)
Main types of haemophilia
![Page 4: genetic basis of hemophilia](https://reader036.fdocuments.in/reader036/viewer/2022082808/55655303d8b42a9a3a8b45e0/html5/thumbnails/4.jpg)
Characteristic symptoms vary with severity.
Deep internal bleeding Easy bruising Joint damage Transfusion transmitted infection
Major signs and symptoms
![Page 5: genetic basis of hemophilia](https://reader036.fdocuments.in/reader036/viewer/2022082808/55655303d8b42a9a3a8b45e0/html5/thumbnails/5.jpg)
Hemophilia is an inherited X-linked genetic disorder.
Our bodies have 12 clotting factors that work together in blood clotting and they are present on X chromosome. Having too little of factors VIII,IX or XI cause hemophilia.
A person with hemophilia will only lack one factor not the three.
Genetics of Hemophilia
![Page 6: genetic basis of hemophilia](https://reader036.fdocuments.in/reader036/viewer/2022082808/55655303d8b42a9a3a8b45e0/html5/thumbnails/6.jpg)
A characteristic of X-linked inheritance is that fathers cannot pass X-linked traits to their sons. It is inherited in zig-zag manner.
A male is “affected” if he has the abnormal gene on his X-chromosome.
A female is a “carrier” of hemophilia if she has the abnormal gene on one of her X chromosomes. Even though she doesn’t have the condition, she can pass the gene on to her children.
![Page 7: genetic basis of hemophilia](https://reader036.fdocuments.in/reader036/viewer/2022082808/55655303d8b42a9a3a8b45e0/html5/thumbnails/7.jpg)
1. Carrier Mother + Non-hemophiliac Father
When a carrier Mother and an unaffected Father create a child, each pregnancy has a 25% chance of resulting in a female non-carrier, a 25% chance of a female carrier, a 25% chance of non-hemophiliac male, and a 25% chance of a male with hemophilia.
Different Cases
![Page 8: genetic basis of hemophilia](https://reader036.fdocuments.in/reader036/viewer/2022082808/55655303d8b42a9a3a8b45e0/html5/thumbnails/8.jpg)
![Page 9: genetic basis of hemophilia](https://reader036.fdocuments.in/reader036/viewer/2022082808/55655303d8b42a9a3a8b45e0/html5/thumbnails/9.jpg)
2. Non-carrier Mother + Father With Hemophilia
Each pregnancy has a 50% chance of a female carrier and a 50% chance of a non-hemophiliac male. Sons of hemophiliac fathers and non-carrier mothers will not have hemophilia.
![Page 10: genetic basis of hemophilia](https://reader036.fdocuments.in/reader036/viewer/2022082808/55655303d8b42a9a3a8b45e0/html5/thumbnails/10.jpg)
![Page 11: genetic basis of hemophilia](https://reader036.fdocuments.in/reader036/viewer/2022082808/55655303d8b42a9a3a8b45e0/html5/thumbnails/11.jpg)
3. Carrier Mother + Father With Hemophilia
Each pregnancy has a 25% chance of a female carrier, a 25% chance of a female with hemophilia, a 25% chance of a non-hemophiliac male, and a 25% chance of a male with hemophilia.
![Page 12: genetic basis of hemophilia](https://reader036.fdocuments.in/reader036/viewer/2022082808/55655303d8b42a9a3a8b45e0/html5/thumbnails/12.jpg)
![Page 13: genetic basis of hemophilia](https://reader036.fdocuments.in/reader036/viewer/2022082808/55655303d8b42a9a3a8b45e0/html5/thumbnails/13.jpg)
4. Mother With Hemophilia + Father With Hemophilia
Each pregnancy has a 50% chance of resulting in a female with hemophilia and a 50% chance of resulting in a male with hemophilia.
![Page 14: genetic basis of hemophilia](https://reader036.fdocuments.in/reader036/viewer/2022082808/55655303d8b42a9a3a8b45e0/html5/thumbnails/14.jpg)
![Page 15: genetic basis of hemophilia](https://reader036.fdocuments.in/reader036/viewer/2022082808/55655303d8b42a9a3a8b45e0/html5/thumbnails/15.jpg)
5. Mother With Hemophilia + Non-hemophiliac Father
Each pregnancy has a 50% chance of resulting in a female carrier and a 50% chance of resulting in a male with hemophilia.
![Page 16: genetic basis of hemophilia](https://reader036.fdocuments.in/reader036/viewer/2022082808/55655303d8b42a9a3a8b45e0/html5/thumbnails/16.jpg)
![Page 17: genetic basis of hemophilia](https://reader036.fdocuments.in/reader036/viewer/2022082808/55655303d8b42a9a3a8b45e0/html5/thumbnails/17.jpg)
Knowledge of genetics lets us make the following statements about hemophilia:
Very rarely, a girl is born with hemophilia. This can happen if her father has hemophilia and her mother is a carrier.
Females who are carriers usually have enough clotting factors from their one normal X chromosome to prevent serious bleeding problems.
Some males with the disorder are born to mothers who aren’t carriers. In these cases, a mutation (random change) occurs in the gene.
![Page 18: genetic basis of hemophilia](https://reader036.fdocuments.in/reader036/viewer/2022082808/55655303d8b42a9a3a8b45e0/html5/thumbnails/18.jpg)
Different types of hemophilia are classified into:
Mild Hemophilia 5 – 30 % Normal Factor
Moderate Hemophilia
1 – 5% Normal Factor Severe Hemophilia
<1% Normal factor
![Page 19: genetic basis of hemophilia](https://reader036.fdocuments.in/reader036/viewer/2022082808/55655303d8b42a9a3a8b45e0/html5/thumbnails/19.jpg)
Hemophilia is quite rare, with only about 1 instance in every 10,000 births (or 1 in 5,001 male births) for hemophilia A and 1 in 50,000 births for hemophilia B.
Occurence
![Page 20: genetic basis of hemophilia](https://reader036.fdocuments.in/reader036/viewer/2022082808/55655303d8b42a9a3a8b45e0/html5/thumbnails/20.jpg)
Hemophilia isn’t curable , but treatment can prevent crippling deformities and prolong life expectancy. Correct treatment quickly stops bleeding by increasing plasma levels of the deficient clotting factor. This helps to prevent disabling deformities due to repeated bleeding into muscles and joints .
MANAGMENT