Hemolytic Anemias Flashcards
Atypical hemolytic uremic syndrome (aHUS)
*aHUS →mutations in any one of several genes encoding complement regulatory proteins
Is an extremely rare disease
(hemolytic anemia),
low platelet count (thrombocytopenia)
inability of the kidneys to process waste products from the blood and excrete.(50% of cases progressing to end-stage renal disease (ESRD))
treatment has been plasma exchange
Anti C5 complement inhibitor(Eculizumab)./abrogate need of plasma exchange.
relapses are always possible , continuing eculizumab,especially in order to prevent ESRD.
HUS] caused by infection with Escherichia coli producing the Shiga toxin, regarded as typical.
General and clinical abnormalities of hemolytic anemias
Jaundice
Urine discolouration
Splenomegaly (some cases hepatomegaly)
Extravascular hemolytic anemia
In liver and spleen (reticuloendothelial sys).
Intravascular hemolysis
خوين كةفدة مييز
Hemoglobinuria
(often associated with hemosiderinuria); in the serum there is free hemoglobin,
LDH is increased,
haptoglobin is reduced
In contrast, the serum bilirubin level may be normal or only mildly elevated.
The main sign of the erythropoietic response by the BM → ↑ Retic
The increased number of reticulocytes is associated with an increased MCV in the blood count.
PBS → macrocytes; polychromasia, and sometimes one sees NRBC
In most cases, a bone marrow aspirate is not necessary in the diagnostic workup; if it is done, it will show erythroid hyperplasia.
Hemolytic anemia:-
Intravascular
Extravascular
hemoglobinuria (often associated with hemosiderinuria)/dec of serum hemoglobin /هيموگلوبين وة ئازايي/ in the serum there is free hemoglobin, LDH (lactate dehydrogenase) is increased, and haptoglobin is reduced.
In contrast, the serum bilirubin level may be normal or only mildly elevated.
In reticuloendothelial sys — زياتر تيكشكان—Incof unconjugated bilirubin /Inc of AST (liver) /urobilinogen will be increased in both urine and stool.
In both forms of hemolysis, there is anemia and jaundice.
Hemoglobinemia and hemoglobinuria occur only in intravascular hemolysis.
Hypertrophy of the mononuclear phagocyte system and consequent splenomegaly are seen only in extravascular hemolysis.
In hemolytic anemia MCV is increased due to
Inc of reticulocyte in blood count
What can be seen in
peripheral blood smear PBS
BM aspiration
macrocytes;
polychromasia,
sometimes NRBC(nucleated)
Erythroid hyperplasia
Hereditary spherocytosis
Can be Autosomal dominant or recessive.
In hereditary spherocytosis
Inc of MCHC
Microcytosis with Inc of MCHC /often normocytic
طوپ بویچگ بویچگ پر له تراکیز هیموگلوبین
Inc of RDW
Clinical features of hereditary spherocytosis
Sever in infancy / mild in young or latter in life
jaundice,
enlarged spleen,
gallstones(it may be the finding of gallstones in a young person that triggers diagnostic investigations)
Treatment of hereditary spherocytosis
Before splenectomy,
vaccination against encapsulated bacteria (Neisseria meningitidis and Streptococcus pneumonia) is imperative
Dehydrated stomatocytosis
کأنما دةم ديرد
Dehydrated hereditary stomatocytosis (DHS) is a rare hemolytic anemia
characterized by a decreased red cell osmotic fragility due to a defect in cation permeability, resulting in red cell dehydration and mild to moderate compensated hemolysis
Stomatocytosis:-
1/ Dehydrated DHS
2/Overhydrated OHS
The erythrocytes’ cell membranes may abnormally ‘leak’ sodium and/or potassium ions, causing abnormalities in cell volume
1/dehydrated (xerocytosis) /leak of potassium ions /dec of MCV 👇/Inc of MCHC👆/compensated hemolysis/mild jaundice.
2/overhydrated (hydrocytosis) /MCV👆/MCHC👇.
قصةي G6PD Deficiency
هذا الأنزيم يصنع غلوتاثيون الذي يحمي الخلايا الحمراء من العوامل المؤكسدة ،
ولك ان تتخيل ماذا يحدث عند نقصه(اليرقان وانحلال الدم)🤗
Persistent neonatal jaundice /often associated with reticulocytosis/ is usually normo-macrocytic.
Bil and LDH are increased.
hemolysis is,chronic in these patients, they are also vulnerable to acute oxidative damage.
Mainly intravascular hemolysis ,but extravascular also can occur (unconjugated hyper-bilirubinemia).
G6PD deficiency has been selected by……………. malaria because it confers a relative resistance against this highly lethal infection
Plasmodium falciparum
splenectomy in G6PD deficiency cause
increase in hemoglobin (paradoxically, often reticulocytes also increase considerably).
Treatment of G6PD deficiency
Supportive /folic acid suplemention.
Blood transfusion
Iron chelation
In sever —BMT
Drugs that may develop G6PD deficiency attack
سلايد ١٥
Because hemolysis in G6PD Deficiency occurs intravascularly
hence, it is associated with
hemoglobinemia,
hemoglobinuria,
high LDH,
low or absent plasma haptoglobin.
PBS In G6PD deficiency
Anisocytosis
Polychromasia
Spherocytes
Bizarre poikilocytosis
Hemighost
Bite or blister cells
In G6PD deficiency blood film …………..
Heinz bodies
The most serious threat from AHA (Acute hemolytic anemia ) in adults is
the development of acute renal failure (this is exceedingly rare in children).
A very small minority of subjects with G6PD deficiency have CNSHA
(Chronic nonspherocytic hemolytic anemia) .
nearly always a male,
usually with a history of NNJ
who may present with anemia, unexplained jaundice,
or gallstones later in life.
The spleen may be enlarged.
Labortary diagnosis of G6PD deficiency
oldest, most G6PD-deficient red cells have been selectively destroyed, and young red cells, having higher G6PD activity, are being released into the circulation.
Only quantitative test , can give a definitive result .
PYRIMIDINE 5’-NUCLEOTIDASE (P5N) DEFICIENCY
Highly distinctive feature of this condition → basophilic stippling
Auto autoimmune haemolytic anemia
onset → often abrupt and can be dramatic→ The Hb may drop, within days, to as low as 4 g/dL; the massive red cell removal will produce jaundice, and sometimes the spleen is enlarged
reticulocyte count is typically elevated
LDH may also be elevated.
sometimes……….. may be the first manifestation that leads to a diagnosis of SLE or lymphoproliferative disorders
WAIHA
When severe anemia is associated with reticulocytopenia, the use of……………. may help to reduce or avoid the requirement for transfusion of red cells
erythropoietin
A full budd chiari syndrome without liver disease
Paroxysmal nocturnal Hemoglobinuria
PNH is a normo-macrocytic anemia
But can become microcytic due to
Chronic hemolysis hence iron deficiency
PNH can result in
Unconjugated bilirubin is mildly or moderately elevated
LDH is typically markedly elevated
Haptoglobin is usually undetectable.
