Hemolytic Anemia Thalassemia

Question 1

The distinguishing feature of all hemolytic anaemia is?

Answer 1

The increased rate of red cells destruction

Question 2

The breakdown od heam from red cells liberates what?

Answer 2

Iron —> recirculation via plasma transferrin to marrow erythroblasts
protoporphyrin —> which is broken down to biilrubin

Question 3

Causes of Extravascular Haemolysis

Answer 3

Hemoglobinopathies
Hereditary spherocytois
Autoimmune hemolytic anemia
Malaria
G6PD deficiency

Question 4

Causes of intravascular hemolysis

Answer 4

Mismatched ABO blood transfusion
Paraoxymal noctoral Hb
Malaria
G6PD deficiency

Question 5

How would the bone marrow be affected by hemolytic anemia?

Answer 5

erythropoietic hyperplasia and anatomical extension of bone marrow

Question 6

Heriditary hemolytic anemia are caused by?

Answer 6

intrinsic red cell defects

Question 7

Aquired hemolytic anemia are caused by?

Answer 7

Extra corpuscular deffects

Question 8

Paraoxymal noctural HBuria is an intinsic or extrinsic disorder?

Answer 8

Paroxysmal Nocturnal Hemoglobinuria is an acquired disorder but the PNH cells have an intrinsic defect

Question 9

Labratory findings of Hemolytic anemia?

Answer 9

1- Features of Increased Haemoglobin Breakdown
i. Jaundice and Hyperbilirubenemia
ii. Reduced plasma Haptoglobin and Hemopixin
iii. Increased serum LDH
iv. Haemoglobinemia
v. Haemoglobinuria
vi. Met-hemoglobinemia
vii. Hemosidrinuria
2- Features of Increased Red cells Production (Compensatory Erythroid Hyperplasia)
i. Reticulocytosis
ii. Macrocytosis and Polychromasia
iii. Erythroid hyperplasia of marrow
iv. Radiological changes in bones (seen only in
congenital anaemia)
3. Feature of Damage to Red Cell
i. Spherocytes
ii. Increased red cells fragility
iii. Red blood cells fragmentation

Question 10

Hemoglobin disorders result from?

Answer 10

1. Reduced synthesis of normal Alpha or Beta globin chains
   -Alpha Thalassaemia
   - Beta Thalassaemia
2. Synthesis of an Abnormal Hemoglobin
   - Crystaline Hemoglobin (HbS, C, D, E, O etc)
   - Unstable Hemoglobin

Question 11

Define Thalasemia

Answer 11

The Thalassaemias are a heterogeneous group of genetic disorders of haemoglobin synthesis all of which result from reduced rate of production or absence of production of one of the globin chains of haemoglobin

Question 12

Unbalanced globin chain synthesis causes?

Answer 12

microcytosis, ineffective erythropoiesis and
hemolysis

—> Hemo tetramer form (insoluble)
—> percipated in RBCs
—> spleen macrophages will recognise it
—> RBCs hemolysis
—> ineffective erythropeises

Question 13

In Beta thalassaemia what will happen regarding the synthesis of the globing chains?

Answer 13

the beta chain synthesis is decreased or absent but there will be unimpaired synthesis of Alpha chains

Question 14

If No alpha missing normal CBC
If one alpha missing?
Two?
Three?
Four?

Answer 14

1 missing Normal CBC (asymptomatic)
2 missing Microcytosis, Minimal anemia
3 missing Microcytosis, hemolysis moderate to severe anemia (hemoglobin H disese)
4 missing fetal demise (lethal in utero) (hemoglobin barts)

Question 15

What will happen if 1/2 betta globia re missing?

Answer 15

1 microcytosis, mild anemia
2 Transfusuion dependent anemia

Question 16

Increasing globin chain imbalance causes?

Answer 16

ineffective erythropoiesis (precipitated α chains)
hemolysis (β tetramers or Hb H)
Worsening anemia

Question 17

Beta thalassemia major

Answer 17

No beta chain produced/unimpared synthesis of Alpha
Homozygous state
Sever microcytic anemia
Marrow expansion
Iron overload
Growth failure and death

Question 18

Beta thalssemia Minor trait

Answer 18

Homozygous state
Asymptomatic with mild or no anemia
red cell abnormalities seen
Defects in transcription, processing or translation of beta- globin m RNA

Question 19

Clinical features of beta Thalassemia Major?

Answer 19

1. Severe anemia with failure to thrive
2. Enlargement of spleen occurs due to excessive red cells destruction, extra-medullary haemopoiesis and later because of iron overload. The
   large spleen increases blood transfusion requirements due to increased pooling of blood.
3. Liver also increased in size
4. Thalassaemic Facies and to thinning of the cortex of many bones with a tendency to fractures and bossing of the skull
5. Infections induced by blood transfusion:
   - Hepatitis B
   - Hepatitis C
   - Human Immunodeficiency Virus (HIV)

Question 20

What’s the issue of contionious blood transfusion?

Answer 20

iron overload caused by repeated transfusions is inevitable unless chelation therapy

Question 21

iron overload might affect different organs

Answer 21

(i) Liver: Cirrhosis Fibrosis) will take place
(ii) Endocrine Organs: failure of growth, delayed or absent puberty, diabetes mellitus,
hypothyroidism and hypoparathyroidism
(iii) Damage to Myocardium can lead to arrhythmias and cardiac failure.

Question 22

The main cause of death if iron overload occured is?

Answer 22

cardiac damage is the main cause of death

Question 23

Labratory diagnosis in Beta Thalasemia major

Answer 23

1- severe microcytic and hypochromic blood picture with marked pokilocytosis and anisocytosis
2- Reticulocytes count is increased
3- Peripheral blood shows normoblasts

Question 24

Beta thalassemia major treatment

Answer 24

• Transfusion
•Iron chelation
•Stem cell transplant

Question 25

Β-Thalassemia Minor

Answer 25

Microcytosis, target cells
•Mild anemia –often asymptomatic
•Decreased HbAproduction → Increased proportion of HbA2