Haemophilia task Flashcards
(25 cards)
What is hemophilia?
A genetic disorder that affects the blood’s ability to clot
It is caused by a defect in the gene responsible for producing clotting factors, typically Factor VIII or IX.
What is the process through which proteins are made in cells?
Protein synthesis, which involves transcription of DNA into mRNA, followed by translation into proteins at the ribosome.
Why is hemophilia more common in males?
Because the defective gene is located on the X chromosome, and males have only one X chromosome.
What are common symptoms of hemophilia?
- Excessive bleeding from minor injuries
- Joint swelling and pain
- Spontaneous bleeding
- Severe bleeding after surgery or injury
What is the typical treatment for hemophilia?
Replacing the missing clotting factor through regular injections
Gene therapy is also being explored as a potential long-term treatment option.
What is a point mutation?
A mutation involving a change in a single nucleotide in the DNA sequence.
What is an example disease caused by substitution point mutation?
Sickle Cell Anaemia.
List symptoms of Sickle Cell Anaemia.
- Vision problems
- Swelling of hands and feet
- Frequent infections
- Irregular heartbeat
- Dizziness
- Shortness of breath
What are possible treatments for Sickle Cell Anaemia?
- Stem cell or bone marrow transplants
- Blood transfusions
What is an insertion mutation?
A mutation that involves the addition of one or more nucleotides into a segment of DNA.
What is an example disease caused by insertion mutation?
Cystic Fibrosis.
List symptoms of Cystic Fibrosis.
- Recurring chest infections
- Difficulty putting on weight
- Frequent wet sounding cough
- Occasional wheezing and shortness of breath
What are possible treatments for Cystic Fibrosis?
- Antibiotics to prevent and treat chest infections
- Medicine to widen the airways and reduce inflammation
What is a deletion mutation?
A mutation that involves the absence of a segment of DNA.
What is an example disease caused by deletion mutation?
Duchenne Muscular Dystrophy.
List symptoms of Duchenne Muscular Dystrophy.
- Difficulty running, jumping, and climbing stairs
- Difficulty getting up from the floor
- Difficulty walking as fast or as far as other children
What are possible treatments for Duchenne Muscular Dystrophy?
There is no curative treatment; corticosteroids may slow progression.
What is a duplication mutation?
A mutation in which one or more copies of a DNA segment is produced.
What is an example disease caused by duplication mutation?
Down Syndrome.
List symptoms of Down Syndrome.
- Small ears and/or mouth
- Upward slanting eyes
- Flattened nose
- Excess skin at the nape of the neck
- Single crease in the palm of the hand
- Decreased muscle tone at birth
What are possible treatments for Down Syndrome?
- Physical or occupational therapy
- Speech therapy
- Special education programs
What is an inversion mutation?
A mutation where part of a chromosome breaks off and reattaches, sometimes losing pieces along the edges.
What is an example disease caused by inversion mutation?
Haemophilia A.
List symptoms of Haemophilia A.
- Many large or deep bruises
- Unexplained and excessive bleeding from cuts or injuries
- Nosebleeds without a known cause
- Pain, swelling or tightness in joints
