SICKLE CELL DISEASE

Question 1

What is sickle cell anemia ?

Answer 1

Sickle-cell disease (SCD), or sickle-cell anaemia (SCA) is a hereditary blood disorder, characterized by red blood cells that assume an abnormal, rigid, sickle shape.

Question 2

The pathogenesis of SICKLE CELL ANEMIA???

Answer 2

1-Hemoglobin is composed of four subunits

2-Two alpha subunits encoded by HBA on chromosome 16

3- While , two peta subunits encoded by the HBB gene on chromosome 11

Question 3

Sickle cell disease is an autosomal recessive or autosomal dominant disorder of hemoglobin?

Answer 3

oSickle cell disease is an autosomal recessive disorder of hemoglobin.

Question 4

Complication of sickle cell anemia?

Answer 4

Pulmonary hypertension: People with sickle cell anemia can develop high blood pressure in their lungs (pulmonary hypertension). This complication usually affects adults rather than children.
•Organ damage: Sickle cells that block blood flow through blood vessels immediately deprive the affected organ of blood and oxygen.
•Blindness: Sickle cells can block tiny blood vessels that supply your eyes. Over time, this can damage the portion of the eye that processes visual images (retina) and lead to blindness.

Question 5

To inherit an autosomal recessive disorder — such as sickle cell anemia — both parents must be carriers. The child inherits two copies of the mutated gene — one from each parent.

Answer 5

SICKLE CELL ANEMIA IS AN AUTOSOMAL RECESSIVE

Question 6

sickle cell anemia disease Due to a point mutation where …………. is replaced by ……… at position … in beta chain

Answer 6

glutamic acid

valine

6

Question 7

TYPES OF SICKLE CELL ANEMIA

Answer 7

1. Hemoglobin ss (sickle cell disease)

2. Sickle cell trait (SCT)

Question 8

HEMOGLOBIN SS

Answer 8

People with Hb SS have 2 sickle cell hemoglobin genes and no normal hemoglobin genes. These genes were passed on to the child from the parents.

Question 9

SICKLE CELL TRAIT (SCT)

Answer 9

is not a disease, but having it means that a person has inherited the sickle cell gene only from one of his or her parents while the other gene is normal (carrier)

Question 10

MAJOR PHENOTYPIC FEATURES of Sickle cell anemia.

Answer 10

Anemia
•Infarction
•Asplenia

فقر دم
•جلطه
• انعدام الطحال