18. Red Cell Disorder-II

Question 1

A 12 year old African child is brought to the doctor with complaints pain and lethargy .Blood test are done showing Howell-Jolly bodies and Sickled Cells. What infections does this patient have an increased risk of getting?

A.  P. Falciparum 
B. Parvovirus B19
C. Malaria 
D. Adenovirus 
E. H. influenzae 

RFA

Answer 1

ANS. E. H. influenza- patients have increased risk of infection by encapsulated bacteria due to autosplenectomy of sickle cell patients at a young age.

A. P. Falciparum-Thalassemia syndromes patients are protect from infection from this organism

B. Parvovirus B19- leads to Aplastic crises in sickle cell patients, worsening the anemia

C. Malaria- patients with sickle cell actually have decrease chance of Malaria infection

D have no association to sickle cell patients

Question 2

A thirty year old women has a blood disorder in which he required normal blood transfusions. Examination show enlarged spleen and and “fuzzy” looking extensions on x-ray of skull and facial bones. What is the causes of the patients issue?

A. B globin gene change of glutamic acid to valine
B. No B Chain production
do to mutation in promoter region.
C. 3 a-gene deletions
D. No B chains productions due to mutation in chain termination
E. Mutation is PIGA gene

RFA

Answer 2

ANS. D. No B chains production due to mutation in chain termination- this describes- B thalassemia major which is what the patients has noted by enlarged spleen and fuzzy looking x-ray

A. B globin gene change of glutamic acid to valine- Sickle Cell Anemia

B. No B chain production due to mutation in promoter region- B Thalassemia minor

C. 3- A gene deletion- H disease

E. Mutation is PIGA gene - PNH

Question 3

A patient is could to have absence of CD55 and CD59 on Flow cytometry. Which of the following does the patient have a risk of developing?

A. Stroke
B. Cardiomyopathy
C. Splenomegaly
D. AML
E. Gallstones

SZ

Answer 3

Ans. D. AML

The patient has PNH. Stem cell mutations put the patient at risk for AML.

Question 4

A 25 y/o African American male presents with sickle cell crisis. Which of the following is not a factor that causes sickling?

A. Dehydration
B. pH
C. Low O2 tension
D. Folate deficiency
E. HbA in HbAS

SZ

Answer 4

Ans. D. Folate deficiency

Question 5

A 6 month old African American infant is brought to the pediatrician after her mother noticed she had yellow sclera. CBC reveals moderate anemia. Cranial XR shows an atypically-shaped appearance of the cranium. Electrophoresis reveals exclusively HbS. The cause of her condition is due to which missense mutation? (MG)

A. Glu → Val
B. Met → Arg
C. Cys → Tyr
D. Ala → Ser
E. Gly → Asp

Answer 5

A. Glu → Val

Sickle Cell Anemia

Mut is in position 6

Question 6

The form of alpha-thalassemia that is incompatible with a live birth is due to a mutation on which chromosome? (MG)

A. 21
B. 16
C. 18
D. 4
E. 8

Answer 6

B. 16

Hb Bart’s or Hydrops Fetalis is not compatible with live birth