Hemoglobinopathies

Sickle cell anemia was first discovered by

• A.Fehling

• G. Herrick

• F.Galton

• G.Mendel

Which of the following hereditary diseases refers to hemoglobinopathies?

• Thalassemia

• mucopolysaccharidosis

• Marfan syndrome

• Tay–Sachs disease

In the mountains some clinically healthy people present with anaemia symptoms. Blood test can reveal sickle cells. What is the genotype of such people?

• АА

• Аа

• аа

• Х^сХ^с

In some areas of South Africa many people have sickle cell disease characterized by red blood cells that assume an abnormal sickle shape due to the substitution of glutamic acid for valine in the hemoglobin molecule. What is the cause of this disease?

• Transduction

• Chromosomal aberration

• Gene mutation

• Crossing-over

Substitution of the glutamic acid on valine was revealed while examining initial molecular structure. For what inherited pathology is this symptom typical?

• Thalassemia

• Sickle-cell anemia

• Tay-Sachs disease

• MacArdle disease

A family of students who came from Africa got a child with anemia signs. The child died soon. Examination revealed that the child’s erythrocytes have abnormal semilunar shape. Specify genotypes of the child’s parents:

• АА х АА

• Аа х аа

• Аа х Аа

• аа х аа

Type of hemoglobin

• HbA

• HbS

• HbF

• HbC

Hb is a globular protein consisting of (number) subunits

Adult Hb (HbA) consists of

• two alpha-globin subunits and two gamma-globin subunits

• two alpha-globin subunits and two beta-globin subunits

• two alpha-globin subunits and two delta-globin subunits

• two alpha-globin subunits and one beta-globin subunit

microcytic hypochromatic hemolytic anemia, abnormal peripheral

blood smear with nucleated red blood cells, reduced amounts of HbA, severe anemia,

hepatosplenomegaly, fail to thrive, become progressively pale, regular blood

transfusion are necessary, and usually come to medical attention between 6 months S

2 years of age.

• Thalassemia major

• Thalassemia intermedia

• Thalassemia minor

• Sickle cell disease