Common Genetic Disorders by Mohammed Abdulla https://padlet.com/ma7892341/tw79ezm2f8huxipx en-us 2023-01-19 09:55:00 UTC 2025-12-29 01:55:52 UTC hello@padlet.com Sickle Cell Anemia ma7892341 https://padlet.com/ma7892341/tw79ezm2f8huxipx/wish/2449569289 Inheritance Pattern
- This condition is inherited in an autosomal recessive pattern , which means both copies of the gene in each cell have mutations

Causes
- It is caused by the inherit of two faulty hemoglobin genes, called hemoglobin S — one from each parent

Symptoms
1. Swelling of hands and feet.
2. Frequent infections.
3. Delayed growth or puberty.
4. Vision problems.

Genetic Screening?
-Genetic testing can help determine which type of sickle cell disease you have or can help confirm a diagnosis if results from blood tests are not clear

Treatment?
- Sickle cell gene therapy involves collecting blood stem cells from the patient and treating them in a special laboratory]]> 2023-01-19 10:03:41 UTC https://padlet.com/ma7892341/tw79ezm2f8huxipx/wish/2449569289 Muscular Dystrophy ma7892341 https://padlet.com/ma7892341/tw79ezm2f8huxipx/wish/2449574410 Inheritance Pattern
- DMD is inherited in an X-linked recessive pattern, meaning the gene that carries the DMD-causing mutation is on the X chromosome.

Causes
MD is caused by changes (mutations) in the genes responsible for the structure and functioning of a person's muscles.

Symptoms
  1. Frequent falls.
  2. Difficulty rising from a lying or sitting position.
  3. Trouble running and jumping.
  4. Waddling gait.

Genetic Screening?
Blood samples can be examined for mutations in some of the genes that cause types of muscular dystrophy.

Treatment?
Treatment options include medications, physical and occupational therapy, and surgical and other procedures.

]]> 2023-01-19 10:08:25 UTC https://padlet.com/ma7892341/tw79ezm2f8huxipx/wish/2449574410 Hemophilia ma7892341 https://padlet.com/ma7892341/tw79ezm2f8huxipx/wish/2449578204 Inheritance Pattern
- If a mother is heterozygous (a carrier) for hemophilia and the father does not have hemophilia, each son has a 1 in 2 (50%) chance of getting his mother's hemophilia allele and having hemophilia. Each daughter has a 1 in 2 (50%) chance of getting her mother's hemophilia allele and being heterozygous.

Causes
-  by a mutation or change, in one of the genes, that provides instructions for making the clotting factor proteins needed to form a blood clot.

Symptoms
  1. Bleeding into the joints. 
  2. Bleeding into the skin 
  3. Bleeding of the mouth and gums

Genetic Screening?
Genetic testing analyzes the factor VIII or factor IX gene in order to identify the genetic variant in the gene which is preventing the gene from producing clotting factor properly and therefore causing hemophilia.

Treatment?
- to replace the missing blood clotting factor so that the blood can clot properly.
]]> 2023-01-19 10:11:48 UTC https://padlet.com/ma7892341/tw79ezm2f8huxipx/wish/2449578204 Red Green Color Blindness ma7892341 https://padlet.com/ma7892341/tw79ezm2f8huxipx/wish/2449582934 Inheritance Pattern
- The genes that can give you red-green color blindness are passed down on the X chromosome

Causes
- The most common kinds of color blindness are genetic, meaning they're passed down from parents. Color blindness can also happen because of damage to your eye or your brain

Symptoms
  1. Trouble seeing colors and the brightness of colors in the usual way;
  2. Inability to tell the difference between shades of the same or similar colors. This happens most with red and green, or blue and yellow.

Genetic Screening?
-The Ishihara test is the most widely used test for red-green color blindness. It consists of a set of 38 color-dotted plates  that contain either a number or a path-shaped design.

Treatment?
- Corrective contact lenses or glasses may help neutralize red-green color blindness. 
]]> 2023-01-19 10:16:00 UTC https://padlet.com/ma7892341/tw79ezm2f8huxipx/wish/2449582934 Cystic Fibrosis ma7892341 https://padlet.com/ma7892341/tw79ezm2f8huxipx/wish/2449586624 Inheritance Pattern
- This condition is inherited in an autosomal recessive pattern , which means both copies of the gene in each cell have mutations.

Causes
-  It's caused by a faulty gene that affects the movement of salt and water in and out of cells.

Symptoms
  1. recurring chest infections.
  2. wheezing, coughing, shortness of breath and damage to the airways 
  3. difficulty putting on weight and growing.
  4. yellowing of the skin and the whites of the eyes

Genetic Screening?
-Genetic testing looks at your DNA from a blood or saliva sample, or cells from the inside of your cheek.

Treatment?
There is no cure for cystic fibrosis, but treatment can ease symptoms, reduce complications and improve quality of life.
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