Named Disorders/lesions

Question 1

Cooley anemia

Answer 1

Beta thalassemia: decreased or absent βchains. Excessive αchains produced in compensation are unable to form tetramers. Instead, they bind to the red blood cell membranes, producing membrane damage, and at high concentrations form toxic aggregates.

Treatment:

• Chronic blood transfusion therapy
• Iron chelation
• Splenectomy
• Hematopoietic transplantation

Question 2

Guillain-Barré syndrome

Answer 2

A disorder in which your body’s immune system attacks your nerves. Weakness and tingling in your extremities are usually the first symptoms. These sensations can quickly spread, eventually paralyzing your whole body.

Question 3

Wilms Tumor

Answer 3

Cancer of the kidneys that typically occurs in children, rarely in adults.

Mutations of the WT1 gene on chromosome 11 p 13 are observed in approximately 20% of Wilms’ tumors

Question 4

Raynaud’s Disease

Answer 4

A condition in which cold temperatures or strong emotions cause blood vessel spasms. This blocks blood flow to the fingers, toes, ears, and nose.

Question 5

Di George Syndrome

Answer 5

22q11 deletion

Cardiac Abnormality (especially tetralogy of Fallot)
Abnormal facies
Thymic aplasia
Cleft palate
Hypocalcemia/Hypoparathyroidism.

Question 6

Pierre Robin sequence

Answer 6

Micrognathia( undersized jaw), cleft palate,and glossoptosis, cardiovascular defects