Hemolytic anemia and Sickle cell/thalassemia Flashcards
Which globin chains is Hgb A made by?
2 alpha, 2 beta
p02 curve shifts LEFT because of _______ O2 affinity. This leads to _____.
p02 curve shifts left because of increased O2 affinity. This leads to erythrocytosis.
p02 curve shifts RIGHT because of _______ O2 affinity. This leads to _____.
p02 curve shifts RIGHT because of decreased O2 affinity. This leads to anemia.
Which globin chains is Hgb A2 made by?
2 alpha, 2 delta
Which globin chains is Hgb F made by?
2 alpha, 2 gamma
What disease has following Hgb Electrophoresis: Hgb A 97% Hgb A2 2% Hgb F 1% Hgb S. 0% Hgb C. 0%
Normal Hgb or Alpha Thal Minor
What disease has following Hgb Electrophoresis: Hgb A 91% Hgb A2 6% Hgb F 3% Hgb S. 0% Hgb C. 0%
Beta Thal Minor
B/B0 or B/B+
Patients are typically asx with microcytic anemia and normal RBC count. Reduced beta globin production
What disease has following Hgb Electrophoresis: Hgb A 0% Hgb A2 30% Hgb F 70% Hgb S. 0% Hgb C. 0%
Beta Thalassemia major. No Hgb A production as no beta globin production.
B0/B0 or B+/B+
What is the phenotype for beta thalassemia major?
Severe transfusion dependence for lifetime. Need chronic transfusions to support hgb of 9-10 range and iron chelation when ferritin is >400
What clinical feature portends poor prognosis in AlloSCT in patients with beta thalassemia major?
Hepatic iron overload
What makes hemoglobin constant spring different from other alpha thalassemias
It results from a nondeletion that results in a prolonged alpha chain. Others are caused by DNA deletions on chromosome 16.
What globin chain combination results in Hgb H
bb/bb-> 4 beta globin chains. Manifested in patients with alpha 0 thal.
Patient of asian descent with hemolytic anemia during times of stress. What is their globin chain makeup?
Hgb H disease –/-a
What disease has following Hgb Electrophoresis: Hgb A 0% Hgb A2 6% Hgb F 4% Hgb S. 90% Hgb C. 0%
Sickle Cell- SS
What disease has following Hgb Electrophoresis: Hgb A 0% Hgb A2 3% Hgb F 17% Hgb S. 80% Hgb C. 0%
Sickle/B0 thal
What disease has following Hgb Electrophoresis: Hgb A 20% Hgb A2 3% Hgb F 17% Hgb S. 60% Hgb C. 0%
Sickle/B+ Thal
What disease has following Hgb Electrophoresis: Hgb A 0% Hgb A2 0% Hgb F 6% Hgb S. 50% Hgb C. 40%
Hgb SC
What disease has following Hgb Electrophoresis: Hgb A 60% Hgb A2 0% Hgb F 0% Hgb S. 40% Hgb C. 0%
Sickle Cell Trait
This complication of sickle cell disease occurs 6 months after birth and is a harbinger of poor prognosis. Strong consideration should be made for AlloSCT in these patients.
Dactylitis (hand foot syndrome)
Most common hemoglobin variant in SE asia?
Combination that will lead to transfusion dependence
Hgb E.
HgbE/B0thal
- What mutation leads to methemoglobinemia?
- When should methylene blue be avoided?
- cytochrome b5 reductase gene
- G6PD
Defects found in hereditary elliptocytosis (2)
Protein 4.1 and glycophorin C
Both are problems with horizontal interaction in RBC skeleton
Defect leading to Hereditary spherocytosis
Spectrin-Ankyrin-Band 3 association proteins of vertical interactions of RBC cytoskeleton
Test to diagnosis HS
Positive Eosin-5-Maleimide binding test. (EMA test)
Child with retinitis pigmentosa, mental retardation, ataxia, and acanthocytes on smear.
Diagnosis:
Abetalipoproteinemia
Caucasian child presents with DAT- hemolytic anemia with normal osmotic fragility test. RBCs have notched (crenated) appearance.
Pyruvate Kinase deficiency
Child presents with mental retardation, muscle spasticity, seizures and hemolytic anemia. Muscle biopsy done to evaluate spasticity shows subsarcolemmal glycogen
Phosphofruktokinase (PFK) deficiency
