5-7 mg/g dry weight; and/or ferritin >1500-2000 ng/mL. ">






0



Sickle my cells Not all that deforms is sickle Quality over Quantity Iron man What a lovely picture
100
What is chromosome 11 ?
This chromosome carries ε(Epsilon) , Gγ,Aγ , δ and β genes


100
What is retinopathy?
Painful Episodes, ACS, and Strokes are more common is hgb SS than hgb SC. There is a condition that affects the eyes is more commonly in hbg SC than hgb SS.
100
What is hemoglobin E Image (Cat3Q1)?
Common in Southeast Asia. Undecided which route to take (Qualitative and quantitative defect ) but when you see with B thalassemia, you should mange like a B thal.
100
What is chelation ( oral Deferasirox , IV or SQ Deferoxamine )
Better to start this afterl age 2 ( because of potential growth impairment and bony changes). Usually started when 120-200 ml/kg of PRBCs have been transfused; LIC > 5-7 mg/g dry weight; and/or ferritin >1500-2000 ng/mL.
100
What is hemoglobin H ?
This diseases causes those inclusions to appear. Cat5Q1
200
What is chromosome 16 ?
This chromosome carries ζ (Zeta) , α2 and α1 genes
200
What is aseptic necrosis of the femoral head ?
All patients with sickle cell disease will have bone pain, but hgb SC patients commonly have this problem.
200
What is Gamma Thalassemia ?
Those thalassemias might cause hemolytic disease of the newborn but don't worry about them in older kids (In utero and transient neonatal microcytic hemolytic anemia)
200
What is Tissue Iron by MRI
You would do this test because Serum ferritin may not accurately represent a patient’s risk (non-linear with iron load; confounded by inflammation and vitamin C deficiency; underestimates iron burden in thalassemia intermedia and Diamond-Blackfan anemia) and cannot substitute for more direct determinations of iron load in susceptible organs. Liver biopsy is invasive and susceptible to sampling errors, but may occasionally be necessary for histologic determination of fibrosis or cirrhosis.
200
What are Howell-Jolly bodies ?
look at the arrowheads. These are remnants of RBC nuclei that are normally removed by the spleen. seen in patients who have undergone splenectomy or who have functional asplenia (eg, from sickle cell disease). Image Cat5Q2
300
What is an Aplastic Crisis?
Sickle cell patients with this condition will present with anemia, normal Spleen, low retic, normal platelets and decreased jaundice than baseline
300
What is Hb C disease?
Those patients' spleens are big and that is not sequestration. Their blood doesn't glitter but has crystals.
300
What is hemoglobin H disease ?
Those genotypes ( – – / a– or – – / aCSa) would cause a disease with a great phenotypic variability. Patients with this condition will have hemochromotasis
300
What is increased intestinal iron absorption
With ineffective erythropoiesis, intestinal iron absorption increases. This is modified by co-inherited mutations and polymorphisms (e.g., HFE gene). Hepcidin level in this case is....
300
What is fetal hemoglobin ?
Kleihauer-Betke test makes it rose-pink. ( Cat5Q3)
400
What is Acute Splenic Sequestration ?
This condition presents with Anemia, Splenomegaly, Reticulocytosis, NRBCs present, Thrombocytopenia and jaundice (may be increased than baseline)
400
What is Hb Lepore
The gene is a crossover fusion product of the delta and beta globin genes, peripheral smear shows microcytosis, hypochromia, and irreversibly sickled cells. Patients with this disorder resemble those with sickle cell anemia or sickle cell-beta0 thalassemia electrophoretically, but have less severe anemia similar to sickle cell-beta+ thalassemia.
400
What is Beta Thalassemia Major ?
Lifelong transfusions or transplantation needed.
Hemochromatosis from increased iron absorption and transfusions. Hb on the newborn screen will be only F
400
What is deferoxamine ?
It might decrease your iron level, but it will destroy your head shoulders knees and toes ( growth retardation) eyes ( visions changes) ears ( hearing loss) , ( you cannot take me through the) mouth, nothing for the nose.
400
What is hemoglobin C disease? hemoglobin C crystals
Makes the spleen big ( splenomgealy) but doesn't kill it ( patients retain their spleen) ( Image 1)
500
What is hydroxyurea?
The TWiTCH trial has found this drug to be non-inferior to chronic transfusion therapy (for TCD velocities, not MRI findings or stroke) for patients without severe vasculopathy by MRA, after at least 12 months of chronic transfusions.
500
What is priapism ( Image Priapus)?
Analgesia, hydration and pseudoephdrine are best remedies, but with this condition, acute transfusion has not been shown to be helpful and some references say exchange transfusion is harmful. Rapid aspiration is OK but avoid shunt procedures.
500
What is HPFH ? also known as (δβ)0-HPFH
When beta is gone, bad things happen. But those patients have no thalassemic peripheral blood phenotype and something else fully compensates for defective δ and β synthesis
500
What is ascorbic acid ( vitamin C) ?
It increases GI absorption of non-heme iron but also increases availability of iron for chelation. Patients with iron overload will be deficient of it. and given in high doses (>500 mg) with deferoxamine, it will cause patients with severe chronic iron overload to have cardiac decompensation. Simply put: give it in normal doses ( 200 mg QD) with chelation, never alone and never to cardiac failure patients.
500
What is the violet curve. ( Image Cat5Q5)?
When the pH or temperature drops , this curve will save your life. (Image Cat5Q5-This first)






Structural Disorder of Hemoglobin Synthesis

Press F11 for full screen mode




Edit | Download / Play Offline | Share