Blood QB -

Physio qts bank – BLOOD.

ESSAY QTS .
1) A 35 year old female is diagnosed to have anaemia.Her
peripheral smear showed macrocytic hypochromie blood cell.
a.what is the probable diagnosis ?b. Define anaemia. Give
morphological classification of anemia c. Explain blood indices
give its normal value d. If treatment with ironand vitamin Btwelve
does not improve clinical condition. How would you treat patient
and why?.
Ans—a. Probable Diagnosis:
Based on the clinical information provided—macrocytic (large)
and hypochromic (pale) blood cells—the probable diagnosis is
megaloblastic anemia. The two most common causes of
megaloblastic anemia are vitamin B12 deficiencyand folate
deficiency. These conditions interfere with DNA synthesis, leading
to ineffective hematopoiesis and large, immature red blood cells
(macrocytes).
b. Definition of Anemia and Morphological Classification:
• Definition of Anemia: Anemia is a condition in which the
number of red blood cells (RBCs) or the hemoglobin concentration
is lower than normal, leading to a reduced capacity of the blood to
carry oxygen to tissues.
• Morphological Classification of Anemia: Anemia can be
classified based on the size (mean corpuscular volume, MCV) and
color (mean corpuscular hemoglobin concentration, MCHC) of the
red blood cells. The major morphological categories are:
1. Microcytic anemia (low MCV):
• Examples: Iron deficiency anemia, Thalassemia, Anemia
of chronic disease
2. Normocytic anemia (normal MCV):
• Examples: Acute blood loss, Hemolysis, Anemia of
chronic disease, Renal disease
3. Macrocytic anemia (high MCV):
• Examples: Megaloblastic anemia (B12 or folate
deficiency), Liver disease, Alcoholism, Hypothyroidism,
Myelodysplastic syndrome
c. Blood Indices and Normal Values:
Blood indices help in assessing the size, hemoglobin content, and
distribution of red blood cells. Key indices include:
• Mean Corpuscular Volume (MCV):
• Definition: Average volume of a red blood cell.
• Normal range: 80-100 fL
• High MCV suggests macrocytic anemia; Low MCV
suggests microcytic anemia.
• Mean Corpuscular Hemoglobin (MCH):
• Definition: Average amount of hemoglobin in a red
blood cell.
• Normal range: 27-31 pg
• High MCH suggests macrocytic anemia or hyperchromic
cells (e.g., in hemolysis); Low MCH suggests hypochromic anemia
(e.g., iron deficiency).
• Mean Corpuscular Hemoglobin Concentration (MCHC):
• Definition: Average concentration of hemoglobin in a
given volume of packed red blood cells.
• Normal range: 32-36 g/dL
• Low MCHC suggests hypochromic anemia; High MCHC
suggests spherocytosis (hereditary) or dehydration.
• Red Blood Cell Distribution Width (RDW):
• Definition: Variation in the size of red blood cells.
• Normal range: 11-15%
• Increased RDW is seen in iron deficiency anemia,
vitamin B12 or folate deficiency, and mixed anemia.
d. Treatment if Iron and Vitamin B12 Does Not Improve the Clinical
Condition:
If the patient's condition does not improve with iron and vitamin
B12 therapy, it's important to reassess the diagnosis and consider
other causes of macrocytic anemia:
• Rule out Folate Deficiency: This can cause
megaloblastic anemia, and it's important to check the serum
folate levels. If low, folate supplementation would be necessary.
• Bone Marrow Disorder (e.g., Myelodysplastic
Syndromes): If there is no improvement, consider evaluating for
bone marrow disorders. This could be done with a bone marrow
biopsy to assess for conditions like myelodysplastic syndrome or
leukemia.
• Other Causes of Vitamin B12 Deficiency: If B12
supplementation doesn't help, look for causes like pernicious
anemia, which may require specific treatment with intramuscular
B12 injections if there is a deficiency in intrinsic factor.
• Liver Disease or Hypothyroidism: These can also cause
macrocytic anemia. Appropriate tests for liver function or thyroid
function may be needed.

3. Child aged 5 years comes with history of severe

anaemia. He was later diagnosed to be suffering from sickle-cell
anaemia.
• What is pathophysiology of sickle-cell anaemia.
• What are different types of haemoglobin.
• Why is HbF raised in such patients.
Ans) a. Pathophysiology of Sickle-Cell Anaemia
Sickle-cell anaemia is caused by a genetic mutation in the β-
globin gene, leading to the production of abnormal hemoglobin
called hemoglobin S (HbS). In conditions of low oxygen, HbS
molecules polymerize (stick together), causing red blood cells to
deform into a characteristic sickle shape. These sickle-shaped
cells are rigid and less flexible, which results in:
1. Impaired circulation: Sickle cells get stuck in small
blood vessels, obstructing blood flow and causing ischemia, pain
(called sickle cell crises), and organ damage.
2. Hemolysis: The sickle-shaped red blood cells have a
shorter lifespan than normal red blood cells (about 10-20 days
instead of 120 days), leading to chronic hemolytic anemia.
3. Increased risk of infection: Sickle cells can damage the
spleen, impairing its ability to filter out infections.
The overall effect is chronic anemia, episodes of pain, increased
risk of infections, and long-term organ damage.

b. Different Types of Hemoglobin

1. Hemoglobin A (HbA): The most common type of
hemoglobin in adults, consisting of two alpha and two beta globin
chains (α₂β₂).
2. Hemoglobin F (HbF): Fetal hemoglobin, consisting of
two alpha and two gamma globin chains (α₂γ₂). It is the
predominant form of hemoglobin during fetal life and is replaced
by adult hemoglobin (HbA) after birth.
 3. Hemoglobin A2 (HbA₂): A minor form of hemoglobin,
consisting of two alpha and two delta globin chains (α₂δ₂). It is
typically present in small amounts in adults.
4. Hemoglobin S (HbS): Abnormal hemoglobin found in
sickle-cell disease. It differs from HbA by one amino acid in the
beta-globin chain (glutamic acid is replaced by valine at position
6).
5. Hemoglobin C (HbC): Another variant hemoglobin,
where lysine replaces glutamic acid at position 6 in the beta-
globin chain. It can also lead to mild hemolytic anemia, but less
severe than HbS.
6. Hemoglobin E (HbE): A hemoglobin variant found in
some Asian populations, causing mild thalassemia-like symptoms
when inherited in homozygous form.

c. Why HbF is Raised in Sickle-Cell Anaemia

In sickle-cell anemia, there is often an elevated level of fetal
hemoglobin (HbF) in the blood. This is because the production of
HbF is not completely shut down after birth, especially in
individuals with sickle-cell disease. The raised levels of HbF can
help mitigate some of the effects of sickling by:
1. Inhibiting polymerization of HbS: HbF does not
polymerize in the same way as HbS, so higher levels of HbF in red
blood cells can reduce the sickling process, improve cell flexibility,
and decrease the frequency of painful sickle cell crises.
2. Improved oxygen-carrying capacity: HbF has a higher
affinity for oxygen compared to HbA or HbS, which can help
alleviate the anemia.
This elevated HbF is often a therapeutic target in sickle-cell
disease. Drugs like hydroxyurea are used to stimulate the
production of HbF in patients with sickle-cell anemia to reduce
symptoms and complications.

4) A 50-year-old chronic alcoholic comes to medicine OPD with

history of excessive bleeding following a fall.
• What are the clotting factors synthesised in the liver.
• Discuss the steps of haemostasis.Explain any four
tests to diagnose bleeding and clotting disorders.
Answer ) a. Clotting Factors Synthesized in the Liver
The liver is the primary site for the synthesis of most clotting
factors, which are essential for the coagulation cascade. These
include:
1. Factor I (Fibrinogen) - Converted into fibrin during clot
formation.
2. Factor II (Prothrombin) - Converted into thrombin, which
then converts fibrinogen into fibrin.
3. Factor V (Proaccelerin) - A cofactor that enhances the
conversion of prothrombin to thrombin.
4. Factor VII (Proconvertin) - Involved in the initiation of
the coagulation cascade.
5. Factor IX (Christmas Factor) - Participates in the intrinsic
pathway.
6. Factor X (Stuart-Prower Factor) - Converts prothrombin
to thrombin in the common pathway.
7. Factor XI (Plasma Thromboplastin Antecedent) -
Involved in the intrinsic pathway.
8. Factor XII (Hageman Factor) - Activates factor XI in the
intrinsic pathway.
9. Factor XIII (Fibrin-Stabilizing Factor) - Crosslinks fibrin to
stabilize the clot.
10. Protein C and Protein S - Natural anticoagulants that
regulate clotting by inactivating factors Va and VIIIa.
Additionally, the liver also produces anticoagulants like
antithrombin and plasminogen, which help regulate the clotting
process and prevent excessive clotting.
b. Steps of Hemostasis
Hemostasis is the process that prevents and stops bleeding. It
involves three key steps:
1. Vasoconstriction: When blood vessels are injured, they
constrict to reduce blood flow and limit blood loss.
2. Platelet Plug Formation (Primary Hemostasis):
• Platelets adhere to exposed subendothelial tissue at the
injury site (due to von Willebrand factor).
• Platelets activate and release chemical signals (e.g.,
ADP, thromboxane A2) that recruit more platelets.
• Platelets aggregate, forming a temporary "platelet
plug" to block the breach in the vessel wall.
3. Coagulation (Secondary Hemostasis):
 • The coagulation cascade is activated, leading to the
conversion of fibrinogen into fibrin.
• Fibrin forms a mesh that strengthens the platelet plug,
making it more stable and effective at stopping the bleeding.
4. Fibrinolysis: After healing, the clot is removed through
fibrinolysis. Plasminogen is activated to plasmin, which digests
fibrin and dissolves the clot.
c. Four Tests to Diagnose Bleeding and Clotting Disorders
1. Prothrombin Time (PT):
• PT measures the extrinsic and common coagulation
pathways (factors I, II, V, VII, and X).
• Prolonged PT can indicate a deficiency in these clotting
factors, often seen in liver disease or with vitamin K deficiency.
2. Activated Partial Thromboplastin Time (aPTT):
• aPTT assesses the intrinsic and common pathways
(factors I, II, V, VIII, IX, X, XI, XII).
• Prolonged aPTT can indicate clotting factor deficiencies
(e.g., hemophilia, liver disease) or the presence of inhibitors (e.g.,
lupus anticoagulant).
3. Thrombin Time (TT):
• TT measures the conversion of fibrinogen to fibrin by
thrombin.
• Prolonged TT can suggest abnormalities in fibrinogen
(e.g., hypofibrinogenemia) or the presence of fibrinogen inhibitors
(e.g., heparin).
4. Platelet Function Tests (e.g., Bleeding Time, Platelet
Aggregation Studies):
• Bleeding time measures the time it takes for a small
wound to stop bleeding and provides information on platelet
function.
• Platelet aggregation studies assess how well platelets
clump together in response to various agonists (e.g., ADP,
collagen).
These tests, when used together, help to diagnose the underlying
cause of bleeding or clotting disorders, such as liver disease,
inherited clotting factor deficiencies, or platelet dysfunction.

5) A 2 year old baby had a fall from chair. He developed swelling

of Rt shoulder and upper arm. On examination at a hospital the
boy had a hematoma of the rt shoulder. Following aspiration of
hematoma the patient developed profuse bleeding. His mother
said that the boy's cousin has similar bleeding problem. Blood
profile: Hb-8gms, Hct-26%, Platelets-2lakhs, BT-normal,
Coagulation profile: PT-12 secs, aPTT-60secs, Thrombin time-
Normal.
• What is the name of this clinical condition?
• In this clinical scenario, what is the cause for bleeding
in a 2 year old boy ?
• Enumerate the mechanism of haemostasis that is
defective in this boy.
• What is the pathophysiology of bleeding disorders?
• What will be first line of treatment in this clinical
condition?
Ans ) a. What is the name of this clinical condition?
The clinical condition described is Hemophilia A (Factor VIII
deficiency), based on the prolonged aPTT and the family history of
a similar bleeding problem. Hemophilia A is an X-linked recessive
disorder that leads to a deficiency of clotting factor VIII, resulting
in bleeding tendencies, especially after trauma or surgery.
b. What is the cause for bleeding in a 2-year-old boy?
The bleeding in this 2-year-old boy is most likely due to a
deficiency of Factor VIII, which is characteristic of Hemophilia A.
The prolonged aPTT (60 seconds, normal is typically 30-40
seconds) suggests an intrinsic pathway clotting factor deficiency,
which is a hallmark of hemophilia. The history of a similar
bleeding problem in the child’s cousin further supports this
diagnosis, as hemophilia is often inherited in families.
c. Enumerate the mechanism of haemostasis that is defective in
this boy.
Hemostasis involves three key stages: vascular spasm, platelet
plug formation, and coagulation cascade. In this case, the defect
is in the coagulation cascade, specifically:
1. Intrinsic pathway: Factor VIII, which the boy is deficient
in, is essential for activating Factor IX in the intrinsic pathway of
the coagulation cascade.
2. Factor VIII deficiency leads to insufficient generation of
thrombin (Factor IIa), which is necessary to convert fibrinogen to
fibrin and form a stable clot.
 3. The result is impaired secondary hemostasis, where the
blood fails to form a stable clot even if the primary platelet plug is
formed, leading to prolonged and excessive bleeding after
trauma.
d. What is the pathophysiology of bleeding disorders?
In bleeding disorders like hemophilia, the pathophysiology
generally involves:
1. Deficiency or dysfunction of clotting factors: In
Hemophilia A, there is a deficiency in Factor VIII, impairing the
clotting cascade.
2. Impaired fibrin clot formation: Without sufficient
functional clotting factors (like Factor VIII or IX), thrombin is not
generated in adequate amounts, leading to failure of fibrin clot
formation.
3. Increased bleeding tendency: This leads to spontaneous
or excessive bleeding, particularly in response to trauma, surgery,
or injury. Patients may experience hematomas, joint bleeds, or
internal bleeding.
e. What will be first line of treatment in this clinical condition?
The first line of treatment in Hemophilia A is the replacement of
Factor VIII. This can be done through:
1. Factor VIII concentrates (derived from pooled human
plasma or recombinant forms) to replace the deficient factor.
2. In severe cases, prophylactic treatment with Factor VIII
may be started to prevent spontaneous bleeds.
3. In an acute bleeding event, factor VIII infusion is
administered to achieve adequate hemostasis.
Additionally, the boy may need supportive care like blood
transfusions for anemia (Hb 8g/dL) and other measures to
manage any complications of bleeding.

6 ) A Rh-negative female marries a Rh positive male. Her first

pregnancy was uneventful. During her second pregnancy she had
stillbirth. Foetus was pallor, swollen, with bloated abdomen.
• What is this clinical condition called?
• Explain why this clinical condition occurs in 2nd
pregnancy.
• What is the prevention and treatment of Rh
incompatibility?
Ans) a. What is this clinical condition called?
This clinical condition is called Hemolytic Disease of the Newborn
(HDN) or Erythroblastosis Fetalis. It occurs when there is Rh
incompatibility between the mother and the fetus.
b. Why does this clinical condition occur in the 2nd pregnancy?
Hemolytic Disease of the Newborn occurs because of Rh
incompatibility between an Rh-negative mother and an Rh-
positive fetus. In the first pregnancy, if the Rh-positive fetus's
blood enters the Rh-negative mother's circulation (e.g., during
delivery), the mother's immune system may produce antibodies
against Rh-positive blood cells. This process is called
sensitization.
During the second pregnancy, if the fetus is Rh-positive again, the
mother's pre-formed antibodies (IgG) can cross the placenta and
attack the fetal red blood cells, leading to hemolysis (destruction
of red blood cells), anemia, jaundice, and in severe cases, fetal
hydrops (swelling, pallor, bloating). The condition typically does
not affect the first pregnancy, but after sensitization, the risk to
subsequent pregnancies increases.
c. Prevention and treatment of Rh incompatibility:
• Prevention:The prevention of Rh incompatibility
involves administering Rh immunoglobulin (RhIg) to the Rh-
negative mother during pregnancy and after delivery. This
treatment prevents the mother from becoming sensitized to Rh-
positive blood cells.RhIg is usually given:
1. At 28 weeks of gestation in an Rh-negative pregnant
woman carrying an Rh-positive fetus.
2. Within 72 hours after delivery if the baby is Rh-positive.
3. After any event where fetal blood may enter the
maternal circulation, such as amniocentesis, miscarriage, trauma,
or invasive procedures.
• Treatment:For an affected fetus or neonate, treatment
options include:
1. Intrauterine blood transfusion to treat severe anemia in
the fetus.
2. Phototherapy after birth to treat jaundice.
3. In severe cases, exchange transfusion may be
performed to remove the maternal antibodies and replace the
damaged red blood cells.
 4. Supportive care for any complications arising from HDN,
including respiratory support for those affected by hydrops or
severe anemia.
The key to reducing the risks of HDN in future pregnancies is
preventing maternal sensitization to Rh-positive blood cells
through the administration of Rh immunoglobulin.