Hemoglobinopathies - Zaman
Terms
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- Quantitative A2
- TEST TO ALWAYS DO FOR THALASSEMIA?
- Delta and Alpha
- Hb A2 has ____ and ____ genes
- NORMAL
- Thal minor looks ____ on a smear.
- a-thalassemia; 3
- HbH disease is a form of ____; ___ genes affected
- SS
- Hemoglobin _____ demonstrate the full manifestation of SCD.
- 1
- silent carrier alpha thalassemia = ___ genes affected
- many; less transcription; Cooley anemia (B thalassemia major)
- Mutations of B chain - ____ different ones; small changes lead to? Big changes lead to?
- is there thalassemia minor of B chain!! (Test)
- A2 increase in hb = ask what?
- hepatosplenomegaly
- Extramedullary hematopoieses leads to?
- some resistance to malaria
- Heterozygosity for HbS can offer?
- MCV, RDW, H, Barts Hb
- Alpha Thalassemia - Low ____, normal ____, HB_ and ____ hemoglobin
- infarctions of bones and organs, severe pain in chest, abdomen and bones, more susceptible to e-coli, aplastic anemia (bone marrow can't compensate for the chronic blood loss)
- What are the symptoms of SCD?
- no severe hemolytic anemias, less deformable red cells and more removal by spleen
- HbC - what are the cells like?
- Zeta gene, epsilon gene; most primitive form of hemoglobin
- Embryonic state - what gene is expressed? What does it bind to? What does this form?
- SCD PTs, MI, cardiomegaly, CHF, TIA, Strep pneumo susceptibility; decreased respiratory function, renal infarcts, priapism (prolonged erections causing ischemia), pigmented bilirubin gallstones (brown in color), salmonella, and osteomyelitis
- Repeated vaso-occlusive disease commonly found in _____ patients; what does this cause?
- hemolytic anemia
- Sickle cell can also lead to?
- Hb electrophoresis
- HPLC - better than ________ but it is still the gold standard
- still express B chains
- Why is sickle cell a normocytic anemia?
- B thal minor, A thal, Fe deficiencies
- If MCH is < 27 test for _____ and < 25 test for ____ (wont see this in ___)
- HbA2 and HbF have to kick in to make up for the lack of oxygen
- Disorder with NO HbA, what happens?
- normocytic or macrocytic anemia
- SCD blood smear?
- change genetic make-up and produce normal B chains
- Give stem cells to do what?
- broader
- Alpha thal = _____ symptoms
- you can function normally w/ 1/2 HbA
- Why don't heterozygous SCD pts have symptoms?
- 1/2 will be HbS and the other half will be HbA
- Heterozygous for SCD?
- valine substituted for glutamic acid in 6th position of B-chain (lysine is substituted in HbC disease)
- Sickle Cell Disease - what is the mutation?
- Autosplenectomy - completely infarcted because of thrombotic events
- What happens to the spleen in Sickle Cell?
- 4; death
- Homozygous a-thal - ____ genes affected; results in?
- a or b chain
- Thalassemia - either ___ or ____ disease
- in the middle, right behind A
- HbA always migrates where? S?
- look for sickle cell trait
- Elevated LDH -->
- Alkaline, A, F, SDG, CEO, H
- In Hb electrophoresis, ____ pH, ___ is one band, ___ is one band, ____ is one, ____ is one, and ___ is one band
- almost none - 90% HbC
- HbA present in HbC disease?
- young children; poling of RBC'S in the spleen; shock
- Who does sequesteration crisis affect? What does it cause? What is the final effect?
- a chain and b chain
- What is adult hemoglobin composed of?
- the type of hemoglobin required to survive in utero
- What is HbF
- they can't produce HbA and begin producing HbS - severe symptoms
- What happens later in life for SCD patients?
- HbS is worst, HbE is least damaging
- HbS, HbC, HbE - least to most severe?
- 2
- Alpha Thalassemia trait = ___ genes affected
- pre-op (hypoxic environment there)
- ______ screening is very important if you suspect SCD.
- decreased gene transcription and unstable mRNA
- What does the mutation cause?
- incompatible
- Homozygous a-thal - life?
- thalassemia minor; thalassemia major
- dB+ = ?; dB0 = ?
- MCV, RDW, stippling; reticulocytes; normal or decreased; normal or increased
- Beta Thalassemia - Low _____, normal _____, basophilic _____; increased _____, TIBC is _____ or _____, bone marrow FE storage ____ or ____.
- acid, s from DG and C from E
- In Hb electrophoresis, ____ pH differentiates ___ from ____ and __ from __.
- before 3rd decade of life
- B-thal major - death?
- Fe defic = no increase in HbA2; Thalassemia - DO produce A2 (B/c it affects genes)
- Distinguishing point between Thal and Fe deficiency?
- HbS and another abnormal hemoglobin (like HbC)
- Double heterozygote genotype?
- increased number of erythroid precurssor cells and expansion of marrow space - facial and cranial deformaties
- Bone marrow in B-thal major?
- alpha thal
- Hb Bart associated with?
- 4; 2
- As many as ____ chains can be affected (as opposed to only ____ B chains)
- lysine for glutamic acid at the 6th aa on B-globin chain
- HbC - mutation?
- HbF; increased
- What is the major Hb present in B thal? Affinity for O2?
- substitution at 26th pos instead of 6th
- HbE disease - difference between HbC?
- high levels of hemoglobin F
- Why is sickle cell disease often asymptomatic in the first several months of life?
- Thal minor (beta) - also sickle cell traits can be distinguished here
- Quantitative chromotography for A2 tests for?
- reticulocytosis
- ________ may be present secondary to chronic hemolysis
- hypochromic and microcytic, hemolysis; hyperplasia
- Homozygous B-thal - severe _______ _____ anemia with active ____.; also erythroid ____.
- alpha, 16
- Gene deletions on ____ chain on chromo ___.
- a primitive form of A - toward the fetal b chain
- What is HbA2?
- disorders - like sickle cell
- HbA2 is expressed with?
- during deoxygenation
- When are B chains damaged (polymerized) in sickle cell?