Thalassemia & Hemoglobinopathies

The principle for hemoglobin electrophoresis is based on which of the following?

• Net charge of the hemoglobin molecule
• Amount of hemoglobin present
• Structure of heme portion
• Temperature

Hemoglobin present on electrophoresis for homozygous sickle cell disease?

• HbA, S, F, A₂
• HbS, F, A₂
• HbA, E, F, A₂
• HbA, C, F

Tags

NGSS.HS-LS3-2

T/F: Sickle cell disease is negative for Dithionate solubility test.

• False
• True

Hemoglobin E migrates with which of the following on alkaline electrophoresis?

• HbF
• HbS & C
• HbA₂ & C
• HbA & F

HbH inclusions are seen when stained with which of the following?

• Wright- Giemsa
• Prussian Blue
• Brilliant Cresyl Blue
• Romanowsky

What is the treatment for α-Thalassemia minor?

• Splenectomy 
• Transfusion therapy 
• Bone marrow transplant
• Usually asymptomatic, no treatment

α-Thalassemia most commonly results from which of the following genetic lesions?

• Promoter mutation
• Gene deletion 
• Termination codon mutation
• Splice site mutation 

Tags

NGSS.HS-LS3-2

Why is hydrops fetalis incompatible with life?

• Life cannot exist without HbA
• Fetal hemoglobin is essential to sustain life after birth
• All three normal adult hemoglobins contain α-chains
• Lack of embryonic hemoglobins precludes fetal development

Which genotype is correct for β-Thalassemia major?

• β/β, β⁰/β⁺, β^-/β^-
• β^sc/β, β⁺/β, β⁰/β⁰
• β⁺/β^-, β^-/β^-, β^-/β⁰
• β⁰/β⁰, β⁰/β⁺, β⁺/β⁺

The single best lab test to distinguish β-Thalassemia minor from α-Thalassemia, IDA, HPFH, and hemoglobinopathies is?

• HbA₂ levels
• Serum iron
• Hemoglobin solubility
• Heinz body stain